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Background Magnetic resonance imaging (MRI) arthrography has been a mainstay in the diagnosis of musculoskeletal (MSK) joint-related pathology for decades. With the advent of MRI and further advancements incorporating powerful magnetic fields, the radiological landscape is undergoing a shift. The objective of this study is to evaluate the relevance and preference for MRI arthrography versus MRI among MSK radiologists in our current clinical practice across a range of geographic locations. Methods A global survey of 52 MSK radiologists was conducted to understand current practices, preferences, and recommendations related to the adoption of MRI arthrography and advanced MRI technologies. Responses were analyzed using descriptive statistics, and significant trends were compiled to present the overall preferences of the participants from their clinical experience. Results The majority of the respondents were from the UK (65%), followed by India (13%), the United States (11.5%), and the United Arab Emirates (8%). Of the radiologists surveyed, 98% currently perform MRI arthrogram procedures within their practice, with 27% of clinicians conducting more than 100 MRI arthrogram procedures annually. Regarding the adoption of 3T MRI scanners, 79% of respondents affirmed they have access to the technology within their respective institutions. Concerning the choice of contrast agents used, 84% preferred dilute gadolinium, 8% used saline, 4% used both gadolinium and saline, and another 4% opted for alternative agents. Despite the growing accessibility and utility of 3T MRI, MRI arthrograms remain a favored procedure, especially for shoulder pathology and postoperative cases. For the hip and wrist, the preference leans toward 3T MRI, except for more complex diagnostic purposes or postoperative cases. Conclusions The study's findings suggest that while the advent of the 3T MRI has impacted the frequency with which MRI arthrograms are conducted, it cannot entirely replace the precision and specificity MRI arthrography offers for particular joint pathologies. As institutions expand upon their MRI and imaging infrastructure, further research in this area may help guide MSK radiologists in selecting the most appropriate imaging modality for patients on a case-by-case basis., Competing Interests: Human subjects: All authors have confirmed that this study did not involve human participants or tissue. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Baskar et al.)

Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.68 to 2.5/100,000, contributing to significant morbidity and mortality. We aimed to study the phenotype-genotype spectrum of genetically confirmed cases of CMD. This was retrospective & descriptive study done at a quaternary care referral centre in south India. Genetically confirmed cases of CMDs seen between 2010 to 2020 were recruited. Detailed clinical history, including pedigree, MRI brain/muscle, next generation sequencing results of 61 CMD cases were collected. Collagen VI-related dystrophy (COL6-RD) (36%) was the most common subtype with variants frequently seen in COL6A1 gene. Other CMDs identified were LAMA2-RD (26%), alpha-dystroglycan-RD (19%), LMNA-RD (8%), CHKB-RD (7%) and SEPN1-RD (3%). Similar to previous cohorts, overall, missense variants were common in COL-6 RD. Variants in triple helical domain (THD) of COL6-RD were seen in 11/22 patients, 5 of whom were ambulatory contrary to previous literature citing severe disease with these variants. However, our follow-up period was shorter. In the LAMA2-RD, 2/16 patients were ambulatory & all 16 carried truncating variants. Among dystroglycanopathies, FKRP-RD was the commonest. Milder phenotype of FKRP- RD was observed with variant c.1343C > T, which was also a recurrent variant in our cohort. p.Arg249Trp variant in LMNA-CMD associated with early loss of ambulation was also identified in 1/5 of our patients who expired at age 2.8 years. The current retrospective series provides detailed clinical features and mutation patterns of genetically confirmed cases of CMD from a single center in India., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction  ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation-contraction of skeletal muscles. Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogressive muscle hypotonia, and anhidrotic ectodermal dysplasia. Autosomal dominant gain-of-function mutation causes Stormorken's syndrome, which includes tubular aggregate myopathy along with bleeding diathesis. Methods  This is a description of a genetically confirmed case of ORAI-1-associated myopathy with clinical, histopathological, and imaging characteristics and a detailed literature review. Results  We report an 18-year-old woman who presented with 2-and-a-half year history of slowly progressive proximal lower limb weakness and ophthalmoparesis. Her serum creatine kinase levels were normal. Magnetic resonance imaging of the muscle showed predominant fatty infiltration of the glutei and quadriceps femoris. Histopathological analysis of muscle biopsy was suggestive of congenital fiber-type disproportion (CFTD). Clinical exome sequencing showed novel homozygous nonsense pathogenic variant NC_000012.12 (NM_032790.3): c.205G > T (p.Glu69Ter) in ORAI-1 gene. Conclusion  This report expands the phenotypic spectrum of ORAI-1-related myopathy to include congenital myopathy-CFTD with ophthalmoparesis, a novel manifestation., Competing Interests: Conflict of Interest None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

Background and Objectives: Dizziness is a frequent complaint encountered in neurology clinics. Dizziness can be spontaneous or triggered, which includes orthostatic dizziness. Orthostatic dizziness can be acute (reflex/vasovagal syncope), chronic (orthostatic hypotension (OH), or postural orthostatic tachycardia syndrome (POTS). Since dizziness has numerous causes, these patients undergo extensive investigations before a diagnosis is made. Here, we describe five patients who presented with dizziness and were diagnosed to have POTS on evaluation., Materials and Methods: We conducted a retrospective study of patients who presented to the Department of Neurology from August 2020 to November 2021 with the complaint of dizziness and were diagnosed with POTS. The clinical history, neurological examination, treatment response, routine blood investigations, magnetic resonance imaging (MRI) brain, and autonomic function tests (AFTs) of the patients were reviewed from patients' clinical records. Patients with dizziness and with diagnosis other than POTS were excluded from the study., Results: Among the five patients, males were predominant with a male to female ratio of 3:2. All the patients were in their early fourth decade with a mean age of 35.4 years. The presenting symptom was dizziness, and the key associated symptoms were anxiety and headache. Due to the orthostatic nature of symptoms and absence of orthostatic fall in blood pressure (BP), a detailed AFT was carried out, leading to the diagnosis of POTS. Patients were assessed at 3-6 months after treatment and there was a moderate response in one and no response in the remaining four patients., Conclusion: POTS should be considered a possible etiology when patients present with orthostatic dizziness in the absence of orthostatic fall in BP. Anxiety and headache may be associated with this type of dizziness., (Copyright © 2024 Copyright: © 2024 Neurology India, Neurological Society of India.)

Introduction: Amyotrophic lateral sclerosis (ALS) is characterized by motor, cognitive, and behavioral impairment. There is a paucity of evidence about the cognitive/behavioral features of ALS patients from India. We aimed to investigate the cognitive/behavioral profile of ALS spectrum disorders in the Indian context., Methods: Sixty patients with ALS spectrum and 40 age-, gender-, and education-matched healthy controls were recruited. The scales used were Addenbrooke's Cognitive Examination (ACE-III), Clinical Dementia Rating (CDR) scale, and Frontal Systems Behavior (FrSBe) Scale., Results: The mean age of the overall cohort was 55 years, and male-to-female ratio was 2.5:1. The mean duration of illness of the cohort was 16 months. Patients were classified as ALS with normal cognition (ALS-cn, n = 21), mild cognitive or behavioral deficits (ALS-ci/-bi, n = 28), and frontotemporal dementia (ALS-FTD, n = 11). ALS-cn had poorer scores compared to healthy controls in global cognition, memory, and language (p < 0.05). ALS-ci/-bi performed poorer than healthy controls on all cognitive domains (p < 0.05). ALS-FTD had poorer scores than healthy controls and ALS-cn on all cognitive domains (p < 0.001). Behavioral assessment showed an increase in apathy among all subtypes. ALS-FTD showed significant worsening in disinhibition and executive function compared to ALS-cn and ALS-ci/-bi., Conclusion: Our findings suggest that there are key cognitive and behavior characteristics in Indian patients with ALS spectrum. This further strengthens the evidence of a cognitive continuum in ALS and FTD in a diverse context and highlights the importance of meticulous evaluation and correct diagnosis that would assist in better management., (© 2024 S. Karger AG, Basel.)

Objective: To segregate imaging expenditures from claims data by resource utilization bands (RUBs) and underlying conditions to create an "expenditure map" of pediatric imaging costs., Methods: A Claims data for children enrolled in a commercial value-based plan were categorized by RUB 0 non-user, 1 healthy user, 2 low morbidity, 3 moderate morbidity, 4 high morbidity, & 5 very high morbidity. The per member per year (PMPY) expense, total imaging spend, and imaging modality with the highest spend were assessed for each RUB. Diagnosis categories associated with high imaging costs were also evaluated., Results: There were 40,022 pediatric plan members. 14% had imaging-related claims accounting for approximately $2.8 million in expenditures. Member distribution and mean PMPY expenditure RUB was respectively: RUB 0 (3,037, $0), RUB 1 (6,604, $7), RUB 2 - 13,698, $27), RUB 3 - 13,341, $87), RUB 4 (2,810, $268), RUB 5 (532, $841). RUB 3 had the largest total imaging costs at $1,159,523. The imaging modality with the greatest mean PMPY expense varied by RUB with radiography highest in lower RUBs and MRI highest in higher RUBs. The top 3 diagnoses associated with the highest total imaging costs were developmental disorders ($443,980), asthma ($388,797), and congenital heart disease ($294,977) and greatest mean PMPY imaging expenditures malignancy/leukemia ($3,100), transplant ($2,639), and tracheostomy ($1,661)., Discussion: Expense mapping using claims data allows for a better understanding of the distribution of imaging costs across a covered pediatric population. This tool may assist organizations in planning effective cost-reduction initiatives and learning how imaging utilization varies by patient complexity in their system., Competing Interests: Declarations of Competing Interest None., (Copyright © 2024. Published by Elsevier Inc.)

Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and repetitive nerve stimulation showed decrement in all. Clinical improvement was noted with pyridostigmine and salbutamol in two patients. All three patients had a homozygous substitution in intron 5: DES(NM_001927.4):c.1023+5G>A, predicted to cause a donor splice site defect. Muscle biopsy with ultrastructural analysis suggested myopathy with myofibrillar disarray, and immunohistochemistry showed partial loss of desmin with some residual staining, while western blot analysis showed reduced desmin. RT-PCR of patient muscle RNA revealed two transcripts: a reduced normal desmin transcript and a larger abnormal transcript suggesting leaky splicing at the intron 5 donor site. Sequencing of the PCR products confirmed the inclusion of intron 5 in the longer transcript, predicted to cause a premature stop codon. Thus, we provide evidence for a leaky splice site causing partial loss of desmin associated with a unique phenotypic presentation of a milder form of desmin-related recessive myopathy overlapping with congenital myasthenic syndrome., Competing Interests: Declaration of competing interest The authors declare no competing interests., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Introduction   VMA21 -related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India. Method  Here, we describe a case of genetically confirmed VMA21 -associated myopathy with clinical, histopathological, and imaging features with a list of known VMA21 mutations. Results  A 29-year-old man had the onset of symptoms at 18 years of age with features of proximal lower limb weakness. Muscle magnetic resonance imaging showed the preferential involvement of vasti and adductor magnus. A biopsy of the left quadriceps femoris showed features of autophagic vacuolar myopathy with vacuoles containing granular eosinophilic materials. In targeted next-generation sequencing, hemizygous mutation in the 3' splice site of intron 2 of the VMA21 gene (c.164-7 T > A) was identified and confirmed the diagnosis of X-linked myopathy with excessive autophagy. Conclusion  This report expands the phenotypic and genotypic profile of VMA21 -related myopathy, with a yet unreported mutation in India., Competing Interests: Conflict of Interest None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

DHTKD1 is a nuclear gene that encodes "dehydrogenase E1 and transketolase domain-containing 1", essential in mitochondrial metabolism. First identified in the patients of 2-amino-apidic and 2 oxoapidic aciduria, mutation in this gene has recently been implicated in CMT2Q and ALS. Here we report the case of a septuagenarian who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical exome sequencing revealed a heterozygous nonsense variant in exon 8 of the DHTKD1 gene, which was previously described in CMT2Q. This report highlights the pleotropic phenotypic presentation of DHTKD1 mutation and the need for genetic testing even in sporadic cases of ALS presenting at a later age.

Background: Hirayama disease (HD) is a cervical compressive myelopathy. Anterior cervical discectomy and fusion (ACDF) is identified as the best surgical approach. We evaluated surgical outcomes and factors influencing ACDF in HD., Methods: Between 2015 and 2019, 126 patients with HD underwent ACDF. Contrast magnetic resonance imaging of the cervical spine in full flexion was performed. Clinical examination and preoperative/postoperative assessment of hand function using Fugl-Meyer assessment, Jebsen-Taylor hand function test, and handheld dynamometry were performed at 3-monthly intervals for 1 year. Surgical outcomes were assessed as per the Odom criteria and Hirayama outcome questionnaire., Results: Age at onset and duration of illness were 12-31 years (mean, 18 ± 2.7) and 1-96 months (32.7 ± 24.4), respectively. All patients had progressive weakness and wasting of the affected limb. Cord atrophy was seen in 97.1%, with epidural detachment and engorgement of the posterior epidural venous plexus in all. All patients underwent ACDF. Of these patients, 54% had an excellent/good outcome and 39% had a satisfactory outcome as per the Odom scale at last follow-up (mean, 44.9 ± 16.5 months) after surgery. Handheld dynamometry showed improvement from preoperative values to 1 year follow-up. Duration of illness and age at onset had a negative correlation and the preoperative Fugl-Meyer score had a positive correlation with improvement., Conclusions: ACDF resulted in remarkable improvement or stabilization in neurologic deficits in many patients with HD. Because motor disability ensues over time, early surgical intervention during the progressive phase is advocated., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. The prevalence of KD is unknown in India., Aim: To describe the phenotypic and laboratory features of an Indian cohort of KD patients., Methods: A retrospective study was done on seven genetically confirmed KD patients based on demographic, clinical and laboratory details., Results: Mean age at onset and presentation was 37 ± 11.9 and 44.6 ± 13.5 years respectively. Progressive asymmetric proximal and distal limb weakness was the commonest symptom (57.1%). All patients had motor symptoms along with non-specific symptoms such as cramps from the onset. Easy fatigability, decremental response along with ptosis were noted in two patients, which was a novel finding. Gynaecomastia and tongue wasting with fasciculations were universal findings. All five patients with nerve conduction studies showed sensorimotor neuropathy. Magnetic resonance imaging muscle done in two patients showed a prominent moth-eaten appearance in the thigh and posterior leg compartment in one patient. The mean cytosine-adenine-guanine repeats were 44 ± 3.7, and there was no association between age of onset or severity with repeat length. Only one patient required an assistive device for ambulation after 15 years of symptom onset., Conclusions: This study showed phenotypic heterogeneity in the Indian cohort. The age of onset was earlier with a slowly progressive indolent course as compared with other ethnic cohorts. This highlights the importance of considering the KD diagnosis in patients with the indolent course and suspected ALS diagnosis even with ptosis and fatigability in an appropriate clinical context., (© 2023 Royal Australasian College of Physicians.)

Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially treatable with commonly available medications such as acetylcholinesterase inhibitors and β2 adrenergic receptor agonists. In this study, we identified and genetically characterized the largest cohort of CMS patients from India to date. Genetic testing of clinically suspected patients evaluated in a South Indian hospital during the period 2014-19 was carried out by standard diagnostic gene panel testing or using a two-step method that included hotspot screening followed by whole-exome sequencing. In total, 156 genetically diagnosed patients (141 families) were characterized and the mutational spectrum and genotype-phenotype correlation described. Overall, 87 males and 69 females were evaluated, with the age of onset ranging from congenital to fourth decade (mean 6.6 ± 9.8 years). The mean age at diagnosis was 19 ± 12.8 (1-56 years), with a mean diagnostic delay of 12.5 ± 9.9 (0-49 years). Disease-causing variants in 17 CMS-associated genes were identified in 132 families (93.6%), while in nine families (6.4%), variants in genes not associated with CMS were found. Overall, postsynaptic defects were most common (62.4%), followed by glycosylation defects (21.3%), synaptic basal lamina genes (4.3%) and presynaptic defects (2.8%). Other genes found to cause neuromuscular junction defects (DES, TEFM) in our cohort accounted for 2.8%. Among the individual CMS genes, the most commonly affected gene was CHRNE (39.4%), followed by DOK7 (14.4%), DPAGT1 (9.8%), GFPT1 (7.6%), MUSK (6.1%), GMPPB (5.3%) and COLQ (4.5%). We identified 22 recurrent variants in this study, out of which eight were found to be geographically specific to the Indian subcontinent. Apart from the known common CHRNE variants p.E443Kfs*64 (11.4%) and DOK7 p.A378Sfs*30 (9.3%), we identified seven novel recurrent variants specific to this cohort, including DPAGT1 p.T380I and DES c.1023+5G>A, for which founder haplotypes are suspected. This study highlights the geographic differences in the frequencies of various causative CMS genes and underlines the increasing significance of glycosylation genes (DPAGT1, GFPT1 and GMPPB) as a cause of neuromuscular junction defects. Myopathy and muscular dystrophy genes such as GMPPB and DES, presenting as gradually progressive limb girdle CMS, expand the phenotypic spectrum. The novel genes MACF1 and TEFM identified in this cohort add to the expanding list of genes with new mechanisms causing neuromuscular junction defects., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background and Objectives: Distal myopathies are a heterogeneous group of primary muscle disorders with recessive or dominant inheritance. ADSSL1 is a muscle-specific adenylosuccinate synthase isoform involved in adenine nucleotide synthesis. Recessive pathogenic variants in the ADSSL1 gene located in chromosome 14q32.33 cause a distal myopathy phenotype. In this study, we present the clinical and genetic attributes of 6 Indian patients with this myopathy., Methods: This was a retrospective study describing on Indian patients with genetically confirmed ADSSL1 myopathy. Details were obtained from the medical records., Results: All patients presented in their first or early second decade. All had onset in the first decade with a mean age at presentation being 17.7 ± 8.4 years (range: 3-27 years) and M:F ratio being 1:2. The mean disease duration was 9.3 ± 5.2 years ranging from 2 to 15 years. All patients were ambulant with wheelchair bound state in 1 patient due to respiratory involvement. The median serum creatine kinase (CK) level was 185.5 IU/L (range: 123-1564 IU/L). In addition to salient features of ptosis, cardiac involvement, bulbar weakness, and proximo-distal limb weakness with fatigue, there were significant seasonal fluctuations and decremental response to repetitive nerve stimulation, which have not been previously reported. Muscle histopathology was heterogenous with the presence of rimmed vacuoles, nemaline rods, intracellular lipid droplets along with chronic myopathic changes. Subtle response to pyridostigmine treatment was reported. While 5 of 6 patients had homozygous c.781G>A (p.Asp261Asn) variation, 1 had homozygous c.794G>A (p.Gly265Glu) in ADSSL1 gene., Discussion: This study expands the phenotypic spectrum and variability of ADSSL1 myopathy with unusual manifestations in this rare disorder. Because the variant c.781G>A (p.Asp261Asn) is the most common mutation among Indian patients similar to other Asian cohorts, this finding could be useful for genetic screening of suspected patients., Competing Interests: HL receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279). AT has received funding from the European Union's Horizon 2020 research and innovation program under grant agreement No. 779257 (Solve-RD). All other authors report no disclosures relevant to the manuscript. Go to Neurology.org/NG for full disclosures., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)

Introduction: GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing with preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10-20 years after onset. This study analyzes the phenotype-genotype characteristics and disease progression in a large cohort of GNEM patients from India., Materials and Methods: Retrospective observational study on GNEM from a quaternary neurology referral hospital in southern India. Data was collected from clinical phenotyping, serum creatine kinase levels, muscle biopsy histopathology, genetic analysis and functional assessment scales - IBMFRS and MDFRS., Results: 157 patients were included with mean age at onset and diagnosis: 26.5±6.2 years and 32.8±7.8 years, respectively. M:F ratio was 25 : 13. Most common presenting symptom: foot drop (46.5%) and limb girdle weakness (19.1%). Wasting and weakness of small muscles of hand and finger flexors seen in 66.2% and as an initial symptoms in 5.2%. Though tibialis anterior involvement was most common (89.2%), early quadriceps weakness was noted in 3.2% and Beevor's sign in 59.2%. Rimmed vacuoles were present in 75% of patients with muscle biopsy. Most common variant was the Indian Founder variant identified in 129 patients (c.2179 G>A, p.Val727Met - 82.2%) and most common zygosity being compound heterozygous state (n = 115, 87.5%). Biallelic kinase domain variations predisposed to a more severe phenotype. Wheelchair bound state noted in 8.9% with a mean age and duration of 32.0±7.1 and 6.3±4.9 years respectively, earlier than previous studies on other ethnic groups., Conclusion: This is the largest GNEM cohort reported from South Asia. The p.Val727Met variant in compound heterozygous state is noted in majority (82.2%) of the cases. Observed relationships between genotype and clinical parameters shows that severity of the disease might be attributable to specific GNE genotype and thus could aid in predicting the disease progression.

Introduction: Nuclear envelopathies occur due to structural and/or functional defects in various nuclear envelope proteins such as lamin A/C and lamin related proteins. This study is the first report on the phenotype-genotype patterns of nuclear envelopathy-related muscular dystrophies from India., Methods: In this retrospective study, we have described patients with genetically confirmed muscular dystrophy associated with nuclear envelopathy. Data on clinical, laboratory findings and muscle MRI were collected., Results: Sixteen patients were included with median age at onset of 3 years (range: 1 month - 17 years). Three genes were involved: LMNA (11, 68.75%), EMD (4, 25%) and SYNE1 (1, 6.25%). The 11 patients with LMNA variants were Congenital muscular dystrophy (MDCL)=4, Limb Girdle Muscular Dystrophy (LGMD1B)=4 and Emery-Dreifuss Muscular Dystrophy (EDMD2)=3. On muscle biopsy, one patient from each laminopathy phenotype (n = 3) revealed focal perivascular inflammatory infiltrate. Other notable features were ophthalmoparesis in one and facial weakness in one. None had cardiac involvement. Patients with EDMD1 had both upper (UL) and lower limb (LL) proximo-distal weakness. Cardiac rhythm disturbances such as sick sinus syndrome and atrial arrhythmias were noted in two patients with EDMD1. Only one patient with variant c.654_658dup (EMD) lost ambulation in the 3rd decade, 18 years after disease onset. Two had finger contractures with EMD and SYNE1 variants respectively. All patients with LMNA and SYNE1 variants were ambulant at the time of evaluation. Mean duration of illness (years) was 11.6±13 (MDCL), 3.2±1.0 (EDMD2), 10.4±12.8 (LGMD1B), 11.8±8.4 (EDMD1) and 3 (EDMD4). One patient had a novel SYNE1 mutation (c.22472dupA, exon 123) and presented with UL phenotype and prominent finger and wrist contractures., Conclusion: The salient features included ophthalmoparesis and facial weakness in LMNA, prominent finger contractures in EMD and SYNE1 and upper limb phenotype with the novel pathogenic variant in SYNE1.

Background: Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive data from the Indian subcontinent is lacking., Objectives: This study aims to describe the clinical and histopathological characteristics of a cohort of genetically confirmed CMs from India and attempts to do phenotype-genotype correlation., Methods: A retrospective chart review of genetically confirmed CMs was evaluated between January 2016 and December 2020 at the neuromuscular clinic. The clinical, genetic, and follow-up data were recorded in a pre-structured proforma as per the medical records, and the data was analyzed., Results: A total of 31(M: F = 14 : 17) unrelated patients were included. The median age at onset and duration of illness are 2.0(IQR:1-8) years and 6.0(IQR:3-10) years respectively. Clinical features observed were proximodistal weakness (54.8%), facial weakness (64.5%), and myopathic facies (54.8%), followed by ptosis (33.3%), and ophthalmoplegia (19.4%). Muscle histopathology was available in 38.7% of patients, and centronuclear myopathy was the most common histopathology finding. The pathogenic genetic variants were identified in RYR1 (29.0%), DNM2 (19.4%), SELENON (12.9%), KBTBD13 (9.7%), NEB (6.5%), and MYPN (6.5%) genes. Novel mutations were observed in 30.3% of the cohort. Follow-up details were available in 77.4% of children, and the median duration of follow-up and age at last follow-up was 4.5 (Range 0.5-11) years and 13 (Range 3-35) years, respectively. The majority were ambulant with minimal assistance at the last follow-up. Mortality was noted in 8.3% due to respiratory failure in Centronuclear myopathy 1 and congenital myopathy 3 with rigid spines (SELENON)., Conclusion: This study highlights the various phenotypes and patterns of genetic mutations in a cohort of pediatric patients with congenital myopathy from India. Centronuclear myopathy was the most common histological classification and the mutations in RYR1 followed by DNM2 gene were the common pathogenic variants identified. The majority were independent in their activities of daily living during the last follow-up, highlighting the fact that the disease has slow progression irrespective of the genotype.

Competing Interests: Disclosures: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. There are no disclosures or sources of funding.

Background While there has been a growing emphasis on evaluating the patient's perspective of health outcomes, caregiver expectations of post-orthopedic procedure disability and pain in a pediatric population are yet to be investigated. This study evaluates whether caregivers' preoperative expectations of pain and function differ from their child's early outcomes after surgical orthopedic intervention. Methodology Patients eight to 18 years old undergoing elective orthopedic surgery were enrolled. The caregivers of consented patients completed a survey at the child's preoperative appointment to predict their postoperative pain and disability. The child was given the same survey during their postoperative visit four to six weeks after surgery to assess actual levels of functioning following the procedure. Scores were analyzed to study correlations between patient and caregiver responses (n = 48). Results Caregivers underestimated their child's postoperative psychosocial functioning, as evidenced by the Psychosocial Health Summary Score, and overestimated pain, as demonstrated by the Numeric Pain Rating Scale. The Pediatric Quality of Life Inventory scores showed caregivers had differing expectations of the impact surgery had across various aspects of the physical, emotional, social, and school functioning domains. Higher parental pain catastrophizing was associated with underestimated predictions of their child's psychosocial functioning after surgery. No significant difference was found in the patient's physical functioning, as shown by the Physical Health Summary Score. Conclusions Surgical intervention is a major event that can provoke anxiety for parents and caregivers. Understanding differences in caregiver perspectives and early postoperative patient outcomes provides physicians valuable insights. Explaining to caregivers that patient psychosocial factors and functional outcomes after surgery are commonly better than expected can alleviate anxiety and prevent catastrophizing. This knowledge can help guide caregiver expectations and plans for their child's postoperative pain control and functional recovery., Competing Interests: The authors have declared financial relationships, which are detailed in the next section., (Copyright © 2023, Baskar et al.)

Background and objective Clubfoot is a common congenital musculoskeletal condition that is treated with manipulation and casting in the first few weeks of life, followed by bracing that extends into early childhood. While children typically do not recall treatment with Ponseti casting in infancy, childhood treatment and monitoring may result in a sense of heightened awareness. In light of this, this study explores how parents share information about clubfoot diagnosis and guide their children in understanding the importance of treatment. Methods Parents of clubfoot children aged 5-18 years were eligible to participate. Primary recruitment was done through social media via Facebook clubfoot support groups. Participants who gave consent completed an electronic survey and were invited to take part in a semi-structured interview to share additional experiences. Significant themes elicited from study interviews were analyzed along with survey responses. Results Survey responses were received from 74 parents, and 23 participated in the semi-structured interview. Of note, 91% of parents indicated discussing clubfoot with their children, beginning at a median age of three years. The age at which parents first discussed clubfoot with their child was significantly earlier for those who "strongly agree" that their children understand their condition versus those who "agree". Although 68% of parents indicated that receiving guidance from their orthopedic provider would be helpful for these discussions, only 18% noted receiving direct advice. Recurrent themes across interviews included being open and honest about the children's diagnosis and treatment, aiding the children in taking ownership of their diagnosis, and validating emotional responses throughout treatment.  Conclusions This study provides valuable insights into initiating conversations with children about structural diagnoses like congenital clubfoot. Recurrent themes from conversations with families provide information on helpful strategies to encourage early discussions about clubfoot diagnosis and treatment to aid children in taking ownership of their diagnosis., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Baskar et al.)

Abstract: Tangier disease is an autosomal recessive multisystem metabolic disorder with neuromuscular manifestations including peripheral neuropathy such as multifocal mononeuropathy or pseudosyringomyelia patterns. We report a novel phenotype of Tangier disease with predominant anterior horn cell involvement. A 16-year-old adolescent girl born to consanguineous parents had a 1-year history of hip girdle weakness with waddling gait and progressive atrophy of the right leg. She had orange tonsils, prominent lingual tonsils, soft skin, distal joint laxity, diffuse hypotonia with asymmetric wasting of legs, proximodistal moderate weakness in lower limbs, and tendon reflexes were hypoactive. The creatine kinase level was 70 U/L. Serum showed an abnormally low level of high- and low-density lipoprotein. Whole-exome sequencing showed a novel likely pathogenic splice site homozygous mutation c.2542+1G > A in the ABCA1 gene at intron 17. Hence, a high degree of suspicion and search for peripheral clinical markers is needed in patients with unusual anterior horn cell syndromes., Competing Interests: The authors report no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Background Clubfoot treatment requires a period of bracing until early childhood to maintain the initial correction achieved by Ponseti casting and serial manipulations. During this period, bracing compliance is the most important factor in preventing the relapse of clubfoot deformity. This period can be challenging for parents, given several factors that affect treatment adherence. In recent years, social media has opened up new ways to seek guidance from an online community, including health-focused areas such as congenital clubfoot. This study examines bracing-related concerns that arise during clubfoot treatment that lead caregivers to seek support from online forums like Facebook. Methodology Six Facebook clubfoot support groups with the highest number of clubfoot posts were evaluated to identify the relative proportion and content of posts related to bracing compliance during December 2021. Bracing-related concerns across all identified posts were then organized into the following six domains that may affect the child's bracing adherence: physical, psychological, commercial, social, bracing device-related, and parental. Results In December 2021, there were 442 total posts across the six clubfoot-focused Facebook groups analyzed. Of these, 23.1% of posts were directly related to bracing compliance. Approximately 22% of these posts had responses where at least one fellow parent suggested seeking advice from a healthcare professional. When these root concerns were organized into six domains that can affect the child's bracing compliance, we found 49 physical, 26 psychological, 5 commercial, 0 social, 14 bracing device-related, and 8 parental factors. Conclusions In this study, 23.1% of all analyzed Facebook posts involved discussion about brace-related concerns, making this a significant topic of discussion on online parental forums. Facebook groups create a community and provide emotional support to parents that support bracing compliance. Clubfoot physicians should be aware of key parental concerns related to bracing compliance, and physicians can provide education on bracing that provides accurate information and anticipatory counseling during regular check-ups with patients and their families., Competing Interests: The authors have declared financial relationships, which are detailed in the next section., (Copyright © 2023, Tonkovich et al.)

Competing Interests: There are no conflicts of interest.

Competing Interests: There are no conflicts of interest.

Competing Interests: There are no conflicts of interest.

Dysferlinopathies are a group of limb-girdle muscular dystrophies causing significant disability in the young population. There is a need for studies on large cohorts to describe the clinical, genotypic and natural history in our subcontinent. To describe and correlate the clinical, genetic profile and natural history of genetically confirmed dysferlinopathies. We analysed a retrospective cohort of patients with dysferlinopathy from a single quaternary care centre in India. A total of 124 patients with dysferlinopathy were included (40 females). Median age at onset and duration of illness were 21 years (range, 13-50) and 48 months (range, 8-288), respectively. The average follow-up period was 60 months (range, 12-288). Fifty-one percent had LGMD pattern of weakness at onset; 23.4% each had Miyoshi and proximo-distal type while isolated hyperCKemia was noted in 1.6%. About 60% were born to consanguineous parents and 26.6% had family history of similar illness. Twenty-three patients (18.6%) lost ambulation at follow-up; the median time to loss of independent ambulation was 120 months (range, 72-264). Single-nucleotide variants (SNVs) constituted 78.2% of patients; INDELs 14.5% and 7.3% had both SNVs and INDELs. Earlier age at onset was noted with SNVs. There was no correlation between the other clinical parameters and ambulatory status with the genotype. Thirty-seven (45.7%) novel pathogenic/likely pathogenic (P/LP) variants were identified out of a total of 81 variations. The c.3191G > A variant was the most recurrent mutation. Our cohort constitutes a clinically and genetically heterogeneous group of dysferlinopathies. There is no significant correlation between the clinico-genetic profile and the ambulatory status., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Chronic progressive external ophthalmoplegia (CPEO) is symptom complex with progressive ptosis and restricted ocular motility without diplopia. MYH2 myopathy is rare disorder presenting with CPEO and muscle weakness. We report two Indian patients of MYH2 myopathy with unique features. Patient-1 presented with early adult-onset esophageal reflux followed by, proximal lower limb weakness, proptosis, CPEO without ptosis. He had elevated creatine kinase along with characteristic muscle MRI findings of prominent semitendinosus and medial gastrocnemius involvement. Patient -2 presented with early adult onset CPEO without limb weakness. His creatine kinase was normal. Both the patients had novel MYH2 mutations: a homozygous 5'splice variation in intron 4 (c.348 + 2dup) in patient 1 and homozygous single base pair deletion in exon 32 (p. Ala1480ProfsTer11) in patient 2. Unique features noted include adult onset, isolated CPEO, proptosis, esophageal reflux disease and absence of skeletal abnormalities. MYH2 myopathy has to be considered in adult patients with CPEO.

Background: With the rise of social media, patients are using a variety of online resources to gather information about medical conditions and connect with others for support. Osteochondritis dissecans (OCD) occurs most commonly among children and adolescents, necessitating early diagnosis and management. The purpose of this study is to evaluate content on social media about OCD to quantify the reach of information shared and themes of discussion surrounding this condition., Methods: A search was performed across Facebook, Instagram, YouTube, and TikTok using the term "osteochondritis dissecans" to identify information shared related to this topic which was then analyzed based on engagement using number of followers, posts, and/or views., Results: Facebook groups provided a forum for online support and information sharing among patients with OCD and their families. The 4 identified groups had a cumulative following of over 4000 people with posts that shared personal recovery stories, solicited treatment advice, and provided updates on patient progress. Review of related Instagram hashtags revealed over 4500 posts, many of which shared personal accounts of living with OCD. The top 5 most viewed YouTube videos collectively had over 189,000 views and were focused on educational information about OCD, relevant surgical techniques, and pertinent anatomy. The top 3 OCD-related TikTok hashtags had over 4 million total views centered on factual knowledge and sharing changes before and after surgical treatment., Conclusion: Patients with OCD and their families seek information about their condition and treatment on online sources including social media. Although social media provides a supportive community to share and receive advice, the quality of information shared in these groups is a subject for concern. Increasing physician involvement and awareness of the information shared across social media platforms may improve accuracy of information and content available to patients., Clinical Relevance: It is important for physicians treating patients with OCD to be aware of all sources of information and support, including content shared on social media as these platforms allow for the sharing of personal stories, recommendations for treatment, and educational content., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: The medial patellofemoral complex (MPFC) is a structure composed of the medial quadriceps tendon-femoral ligament (MQTFL) superiorly and the medial patellofemoral ligament (MPFL) inferiorly. The pediatric MPFL anatomy has been well described, but the precise anatomy of the MQTFL has only recently been described and studied in skeletally immature patients., Purpose: To describe the anatomic relationship between the MQTFL and its insertion on the quadriceps tendon and patella in pediatric specimens., Study Design: Descriptive laboratory study., Methods: A total of 22 pediatric cadaveric knee specimens were dissected to analyze attachment of the MQTFL to the quadriceps tendon and patella. Dissection was facilitated using lateral parapatellar arthrotomy followed by eversion of the extensor mechanism to evaluate MQTFL fibers from its undersurface., Results: The mean specimen age was 7.4 years. Specimens were divided based on age into a younger cohort (1-2 years), middle cohort (4-8 years), and older cohort (9-12 years). The quadriceps tendon attachment (QTA) of the MQTFL proximal to the patella extended a median of 5.0 mm in the younger cohort, 11.4 mm in the middle cohort, and 12.0 mm in the older cohort, with significant differences found between the younger and middle cohorts ( P < .047) and the younger and older cohorts ( P < .001). The QTA as a percentage of patellar articular height averaged 44.4% across all specimens. The vertical height of the patella measured a median of 14.0 mm, 22.3 mm, and 27.3 mm in the younger, middle, and older cohorts, respectively., Conclusion: This study expands on the recently described anatomy of the pediatric MPFC to quantify the anatomic relationship between the MQTFL attachment to the quadriceps tendon and patella in a more clinically relevant cohort of donor specimens., Clinical Relevance: As access to pediatric cadaveric tissue is extremely limited, a better understanding of MPFC and MQTFL anatomy will support surgeons in preoperative planning and intraoperative considerations for their approach to MQTFL and MPFL reconstruction. This may facilitate improved anatomic surgical stabilization of the patellofemoral joint in pediatric patients.

Introduction There is a substantial need for orthopaedic surgery-specific boot camps due to the limited orthopaedic and musculoskeletal education in medical school, which inadequately prepares medical students for their orthopaedic surgery sub-internships. The aim of this study is to identify the impact of the novel orthopaedic surgery boot camp on medical students' confidence with key orthopaedic topics. Methods A cross-sectional study was conducted using an anonymous online survey distributed to medical students attending the novel orthopaedic surgery boot camp. The boot camp consisted of a four-day immersion course into the basics of orthopaedic surgery principles through both didactic and skills-based educational series. The medical students' confidence in orthopaedic surgery clinical and technical skills were assessed by comparing the students' survey responses before and after attending each of the sessions. Results Twelve fourth-year medical students and 15 second-year medical students attended the boot camp. All the sessions attended by the medical students were statistically significant in improving their confidence in the subject matter and skills-based training. Hundred percent (100%) of the fourth-year medical students recommend future orthopaedic surgery-bound medical students to attend this boot camp. Conclusion A dedicated orthopaedic surgery boot camp focused on clinical and technical skills plays a key role in increasing medical students' confidence with key orthopaedic topics by providing an opportunity to practice these skills in a supervised environment with real-time feedback. This novel boot camp can provide a framework for creating a longitudinal course for medical students to augment the musculoskeletal education taught in medical school education., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Parekh et al.)

Background: Dynamic supination is a well-recognized cause of congenital clubfoot deformity relapse. However, there is no consensus on how to diagnose it and there are varied approaches in its management. This study aims to define dynamic supination and indications for treatment by presenting consensus from an international panel of experts using a modified Delphi panel approach., Methods: An international panel of 15 pediatric orthopaedic surgeons with clinical and research expertise in childhood foot disorders participated in a modified Delphi panel on dynamic supination in congenital clubfoot. Panelists voted on 51 statements using a 4-point Likert scale on dynamic supination, clinical indications for treatment, operative techniques, and postoperative casting and bracing. All panelists participated in 2 voting rounds with an interim meeting for discussion. Responses were classified as unanimous consensus (100%), consensus (80% or above), near-consensus (70% to 79%), and indeterminate (69% or less)., Results: Consensus was achieved for 34 of 51 statements. Panelists agreed dynamic supination is present when the forefoot is supinated during swing phase of gait with initial contact on the lateral border of the foot. There was also agreement that dynamic supination results from muscle imbalance between the tibialis anterior and the peroneus longus and brevis. There was no consensus on observation of hindfoot varus in dynamic supination, operative indications for posterior release of the ankle joint, or incisional approach for tibialis anterior tendon transfer. Reference to the calcaneopedal unit concept, planes of movement, and phases of gait were deemed important factors for consideration when evaluating dynamic supination., Conclusions: Consensus statements from the Delphi panel can guide diagnosis and treatment of dynamic supination in clubfoot deformity relapse, including clinical decision making regarding preoperative casting, surgical approach, and postoperative immobilization. Near-consensus and indeterminate statements may be used to direct future areas of investigation., Level of Evidence: Level V., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: This paper aims to report on the last 5 years of relevant research on pediatric foot and ankle pathology with specific focus on clubfoot, congenital vertical talus, toe walking, tarsal coalitions, pes planovalgus with or without accessory navicular, foot and ankle trauma, and talar dome osteochondritis dessicans., Methods: The Browzine platform was used to review the table of contents for all papers published in the following target journals related to the treatment of pediatric foot and ankle conditions. Search results were further refined to include clinical trials and randomized controlled trials published from March 1, 2015 to November 15, 2021., Results: A total of 73 papers were selected for review based on new findings and significant contributions in treatment of clubfoot, congenital vertical talus, toe walking, tarsal coalitions, pes planovalgus with or without accessory navicular, foot and ankle trauma, and talar dome osteochondritis dessicans. Also included were several papers that did not fit into any of these categories but provided new insight into specific foot and ankle pathologies., Conclusions: Treatment strategies for children with foot and ankle pathology are continually evolving. We review many of the most recent publications with the goal of improving understanding of these pathologies and highlighting current best practices., Level of Evidence: Level III., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Competing Interests: There are no conflicts of interest.

Case: A boy with bilateral congenital clubfoot, Kleefstra syndrome, and Duchenne muscular dystrophy (DMD) developed clubfoot relapse after excellent initial correction with the Ponseti method and maintenance abduction bracing. A traditional clubfoot tibialis anterior transfer was augmented with a tibialis posterior tendon transfer, given underlying DMD at ages 7 and 10 years for the right foot and left foot, respectively., Conclusion: This case illustrates successful maintenance of correction using combined tibialis anterior and tibialis posterior tendon transfer. Tibialis posterior tendon transfer may be useful for clubfoot relapse in conditions that weaken the tibialis anterior or in failed tibialis anterior tendon transfers., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B822)., (Copyright © 2022 by The Journal of Bone and Joint Surgery, Incorporated.)

Background: Approximately half of treated clubfoot patients initially corrected with the Ponseti method experience relapse that requires additional treatment. The consequences of relapse on childhood activity levels have not been well studied. Ponseti noted lower functional ratings at 18-year follow-up in clubfoot patients who had undergone tibialis anterior tendon transfer for relapse., Methods: Clubfoot Activity and Recurrence Exercise study (CARES) is an observational, prospective cohort study that compares physical activity in 30 clubfoot patients without and with relapse. Eligible participants were 5 to 10 years old, diagnosed with idiopathic clubfoot at birth, and had not received any clubfoot treatment for at least 6 months before study. Recruitment for this study occurred in-person and through Facebook clubfoot groups. Consented participants wore Fitbits secured to their wrists for at least 14 days, and completed a demographic survey, Child Health Questionnaire (CHQ), and the clubfoot disease-specific instrument (CDSI). Participants' daily activity was monitored through Fitabase., Results: Participants without and with clubfoot relapse had similar daily step counts, distance walked, and step intensities, except for moderately active step intensity, which was higher in the clubfoot relapse group. Total steps, total distance, distances (very active, moderately active), minutes (very active, fairly active), and lightly active intensity of steps were significantly higher for participants whose families earn more than $100,000 per year. Various physical activities and sports were reported by both groups in daily activity sheets. Neither demographics nor the CDSI or the CHQ scores significantly differed between the 2 groups. Step counts of children with clubfoot with or without relapse were similar to published levels for healthy children., Conclusion: Children with clubfoot initially treated with the Ponseti method who undergo treatment for relapse have comparable physical activity to those who have not relapsed. They also have comparable step counts to that of the general pediatric population. These reassuring findings can guide conversations with parents when addressing concerns regarding their children's physical activity after treatment for relapse of clubfoot deformity., Level of Evidence: Level II-therapeutic studies-investigating the results of treatment., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)