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Camptocormia, a severe flexion deformity of the spine, presents challenges in monitoring its progression outside laboratory settings. This study introduces a customized method utilizing four inertial measurement unit (IMU) sensors for continuous recording of the camptocormia angle (CA), incorporating both the consensual malleolus and perpendicular assessment methods. The setup is wearable and mobile and allows measurements outside the laboratory environment. The practicality for measuring CA across various activities is evaluated for both the malleolus and perpendicular method in a mimicked Parkinson disease posture. Multiple activities are performed by a healthy volunteer. Measurements are compared against a camera-based reference system. Results show an overall root mean squared error (RMSE) of 4.13° for the malleolus method and 2.71° for the perpendicular method. Furthermore, patient-specific calibration during the standing still with forward lean activity significantly reduced the RMSE to 2.45° and 1.68° respectively. This study presents a novel approach to continuous CA monitoring outside the laboratory setting. The proposed system is suitable as a tool for monitoring the progression of camptocormia and for the first time implements the malleolus method with IMU. It holds promise for effectively monitoring camptocormia at home. [ABSTRACT FROM AUTHOR]

Postural abnormalities are a debilitating symptom of Parkinson disease (PD) that may require spinal intervention. Camptocormia is a unique abnormality most seen in PD, defined by a severe forward flexion of the trunk that completely resolves when supine. The condition presents a challenge due to an undefined pathophysiology and optimal therapeutic approach in a high-risk patient population. In this study, we systematically reviewed the literature regarding the use of spine surgery for the treatment of camptocormia in PD. PubMed, Embase, Web of Science, and Cochrane Library were systematically queried for studies involving spine surgery as treatment of PD-associated camptocormia. Studies involving nonsurgical management, involving deep brain stimulation, involving noncamptocormic PD patients undergoing surgery, or were out of scope were excluded. The search resulted in 5 studies, with a total of 19 patients with PD with camptocormia who underwent spine surgery (73.7% women). The mean age was 69.5 years (range, 59–83), and the mean PD duration was 69.5 months (range, 36–84). Of 19 patients, 11 required surgical revision (57.9%), with an average of 0.68 revisions per patient (range, 0–2). Radiographic and patient-reported outcomes were inconsistently reported yet showed improvement. Ultimately, 18 patients were reported to have positive outcomes. Despite an increased risk of complication and revision that is inherent to patients with PD, spine surgery has been proven as a reasonable alternative that should be prospectively studied further because 18 of 19 patients had favorable outcomes. [ABSTRACT FROM AUTHOR]

Abstract Background Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life. Case presentation In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests. There was no history of neuro-muscular diseases in the family. Serum CK levels were moderately increased while other blood/urine parameters were normal. Magnetic resonance imaging showed fatty remodeling of the muscles of the back. Histochemical examination of a muscle biopsy revealed the absence of myophosphorylase activity, while gene analysis identified a known early-onset McArdle mutation in the PYGM gene. Conclusion This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease.

Background/Objective: Parkinson's disease (PD), a prevalent neurodegenerative disorder, leads to motor and non-motor impairments, affecting quality of life. Camptocormia can be one of the motor signs of PD, characterized by a severe and abnormal forward flexion of the thoracolumbar spine that typically occurs when walking or standing. The following study aims to verify whether postural gymnastics can be an effective treatment for trunk control, balance, activities of daily living, and general well-being in patients with early-stage PD and camptocormia. Methods: Nine participants (mean age 67.7 ± 7.8) with early PD (Hoehn and Yahr Scale ≤ 2) received 10 biweekly physiotherapy sessions. Outcomes were measured using the Parkinson's Disease Questionnaire (PDQ-39) and Berg Balance Scale (BBS) along with trunk mobility and muscle tests according to the Medical Research Council (MRC) scale. Results: Statistically significant results were noted in the PDQ-39 mobility, ADLs and emotional well-being subscales and in the BBS; statistically significant improvements were also seen in trunk mobility and muscle strength. Conclusions: This study shows that the postural gymnastic treatment, according to Souchard, in patients with PD's camptocormia has obtained good results and has the potential timprove mobility and balance, encouraging and motivating patients in their rehabilitation journeys. [ABSTRACT FROM AUTHOR]

Background: Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life. Case presentation: In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests. There was no history of neuro-muscular diseases in the family. Serum CK levels were moderately increased while other blood/urine parameters were normal. Magnetic resonance imaging showed fatty remodeling of the muscles of the back. Histochemical examination of a muscle biopsy revealed the absence of myophosphorylase activity, while gene analysis identified a known early-onset McArdle mutation in the PYGM gene. Conclusion: This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease. [ABSTRACT FROM AUTHOR]

Background: Olfactory dysfunction is a non-motor symptom and an important biomarker of Parkinson's disease (PD) because of its high prevalence (> 90%). Whether hyposmia correlates with motor symptoms is unclear. In the present study, we aim to investigate the relationship between olfactory impairment with both motor and non-motor features and disease variables (disease duration, stage, and severity). Methods: One-hundred fifty-four PD patients were evaluated. Odor identification ability was tested using Italian Olfactory Identification Test (IOIT). A comprehensive spectrum of motor and non-motor features was assessed. Cognitive function was investigated through MMSE. Patients were divided into 3 different clinical phenotypes using UPDRS-III: tremor-dominant type (TDT), akinetic-rigid type (ART), and mixed type (MXT). Results: Three of the 33 IOIT items were most frequently misidentified: basil (74.3%), coffee (66.9%), and mushroom (59.6%). Hyposmia was found in 93%. Hyposmic patients were older than controls (p = 0.01). Hoehn & Yahr (H&Y) score of 2 or greater was associated with higher probability of being hyposmic (OR = 5.2, p = 0.01). IOIT score did not significantly differ between TDT, ART, and MXT of analyzed PD patients. Performance to IOIT inversely correlated with age (p < 0.01), disease duration (p = 0.01), and H&Y score of 2 or higher (p < 0.01). Clinical features that associated with higher IOIT score were freezing of gait (FOG) (p < 0.001) and camptocormia (p < 0.05). Conclusions: In our cohort, IOIT scores showed a positive correlation with axial motor signs, but not with non-motor symptoms. IOIT may be a useful tool not only for supporting PD diagnosis but also for providing prognostic information about motor function. [ABSTRACT FROM AUTHOR]

The article discusses a case of hereditary truncal dystonia associated with an ANO3 gene variant. The patient, a 67-year-old woman, presented with flexion of the thoracolumbar spine and a family history of late-onset camptocormia. Genetic testing revealed a likely pathogenic variant in the ANO3 gene, broadening the phenotypic spectrum of ANO3-related dystonias. The study highlights the importance of genetic testing for patients with truncal dystonia and a positive family history, offering insights into the genetic basis of movement disorders. [Extracted from the article]

Photo-based measurement methods are used to assess axial postural abnormalities (PA) in Parkinson's disease (PD). However, they capture only moments in time. We developed the 2-minute standing endurance test (2 M-SET), which specifically captures temporal changes in posture, as a novel dynamic method for measuring axial PA in patients with PD. This study aimed to verify the effectiveness and validity of the 2 M-SET for capturing temporal changes in axial PA in patients with PD. Twenty-eight patients with PD participated. The participants attempted to maintain an upright posture for 2 minutes during three tasks: standing, stepping in place, and walking. The rate of change in postural angle was recorded at 10-second intervals. Based on the results, the 2 M-SET was developed. Therapists evaluated the 2 M-SET using the NeuroPostureApp© to measure anterior trunk flexion (ATF) angles and lateral trunk flexion (LTF) angles at 0, 10, 30, 60, and 120 seconds. To assess reliability, the congruence between the measurements obtained by the therapists and those obtained using a three-dimensional motion-analysis system was examined. For validity, we assessed whether the ATF and LTF angles measured by the therapists could accurately capture postural changes at regular intervals over time. The average postural changes over 2 minutes for the standing, stepping in place, and gait tasks were 59.2±83.5%, 37.6±30.7%, and 45.4±50.6%, respectively. The intraclass correlation coefficients showed high reliability, with values of 0.985 and 0.970 for the ATF and LTF angles, respectively. The results of our proposed 2 M-SET method, which uses temporal photo-based measurements to assess the patient's ability to maintain an upright standing position for 2 minutes, demonstrate the potential to capture temporal changes in axial PA. The data supporting the findings of this study are available upon reasonable request and approval from the local ethics committee. • Photo-based assessment of postural abnormalities (PA) can only capture temporary efforts. • We describe a 2-Minute Standing Endurance Test for measuring axial PA. • Our proposed method has the potential to capture temporal changes in axial PA. [ABSTRACT FROM AUTHOR]

Introduction/Aims: Limb‐girdle muscular dystrophy R1 (LGMDR1) calpain 3‐related usually presents as a recessively transmitted weakness of proximal limb‐girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4). The mechanism underlying this difference in transmission patterns has not yet been elucidated. Camptocormia, progressive limb weakness, myalgia, back pain, and increased CK levels are common clinical features associated with dominant forms. The p.Lys254del pathogenic variant was associated with camptocormia in two LGMDD4 families. This study aimed to present carriers found in recessively transmitted LGMDR1 families bearing the p.Lys254del variant that do not show muscle weakness. Methods: DNA sequencing was performed on exon 5 of CAPN3 in family members to establish the carrier status of the pathogenic variant. They were evaluated clinically and MRI was performed when available. Results: Two families presented with the p.Lys254del pathogenic variant in a homozygous or compound heterozygous state. Family members carrying only the pathogenic variant in the heterozygous state did not demonstrate the myopathic characteristics described in dominant patients. Camptocormia and other severe clinical symptoms were not observed. Discussion: We conclude that the p.Lys254del pathogenic variant per se cannot be solely responsible for camptocormia in dominant patients. Other undisclosed factors may regulate the phenotype associated with the dominant inheritance pattern in CAPN3 pathogenic variant carriers. [ABSTRACT FROM AUTHOR]

Objectives Inaugural axial muscle involvement, defined as dropped head syndrome (DHS) and/or camptocormia (CC), is poorly described in inflammatory myopathies (IM). This study aimed to further characterize IM patients with inaugural DHS/CC, their outcome and care management. Methods This retrospective study included IM patients diagnosed between 2000 and 2021. The main inclusion criterion was IM revealed by axial muscle deficit (DHS/CC). Results Twenty-seven patients were included; median (IQR) age at first symptoms was 66.0 years (55.5–75.0); 21 were female (77.8%). There were nine IBM, 33.3%, nine overlap myositis (OM, 33.3%), five DM, 18.5%, two immune checkpoint inhibitor-related myositis (7.4%), one focal myositis (3.7%) and one myositis with anti-Hu antibodies (3.7%). Age at first symptoms was ≤70 years in 16 patients (59.3%), including all DM patients and 8/9 OM patients (88.9%). In this group, partial remission of the disease was obtained in 9/16 (56.3%) and complete remission in 1/16 patients (6.3%); regression of DHS/CC was achieved in 3/16 patients (18.8%). Conversely, in the group of 11 patients aged >70 years at first symptoms, there were eight IBM (72.7%). Partial remission was obtained in 5/11 patients (45.5%), the disease was stable in 6/11 patients (54.5%); no complete remission was obtained nor regression of DHS/CC. Conclusion The analysis of IM patients with inaugural DHS/CC delineates two groups of patients according to the age at first symptoms in terms of clinical and outcome specificities, and proposes an adapted diagnostic and care management approach to prevent long-term complications. [ABSTRACT FROM AUTHOR]

Background: Postural abnormalities involving the trunk are referred to as axial postural abnormalities and can be observed in over 20% of patients with Parkinson's disease (PD) and in atypical parkinsonism. These symptoms are highly disabling and frequently associated with back pain and a worse quality of life in PD. Despite their frequency, little is known about the pathophysiology of these symptoms and scant data are reported about their clinical predictors, making it difficult to prompt prevention strategies. Objectives: We conducted a scoping literature review of clinical predictors and pathophysiology of axial postural abnormalities in patients with parkinsonism to identify key concepts, theories and evidence on this topic. Methods: We applied a systematic approach to identify studies, appraise quality of evidence, summarize main findings, and highlight knowledge gaps. Results: Ninety‐two articles were reviewed: 25% reported on clinical predictors and 75% on pathophysiology. Most studies identified advanced disease stage and greater motor symptoms severity as independent clinical predictors in both PD and multiple system atrophy. Discrepant pathophysiology data suggested different potential central and peripheral pathogenic mechanisms. Conclusions: The recognition of clinical predictors and pathophysiology of axial postural abnormalities in parkinsonism is far from being elucidated due to literature bias, encompassing different inclusion criteria and measurement tools and heterogeneity of patient samples. Most studies identified advanced disease stage and higher burden of motor symptoms as possible clinical predictors. Pathophysiology data point toward many different (possibly non‐mutually exclusive) mechanisms, including dystonia, rigidity, proprioceptive and vestibular impairment, and higher cognitive deficits. [ABSTRACT FROM AUTHOR]

Background: Camptocormia (CC) is the forward-bending of the spine of more than 30 degrees that can be found in Parkinson's disease (PD) as a disabling complication. Detection of changes in paraspinal lumbar musculature in CC is of value for choosing treatment strategies. Objective: To investigate whether these changes can be detected using muscle ultrasonography (mUSG). Methods: Age and sex-matched groups comprised 17 PD patients with CC (seven acute, PD-aCC; 10 chronic PD-cCC), 19 PD patients with no CC, and 18 healthy controls (HC). Lumbar paravertebral muscles (LPM) on both sides were assessed using mUSG by two different raters blinded to the group assignment. Groups were compared with regard to the linear measurements of the muscle thickness as well as semi-quantitative and quantitative (grayscale) analyses of muscle echogenicity using a univariate general linear model. Results: All assessments showed substantial interrater reliability. The PD-cCC group had significantly thinner LPM compared to groups with no CC (PD and HC). Groups of PD-aCC and PD-cCC differed from the groups of no CC in quantitative and semi-quantitative analyses of LPM echogenicity, respectively. Conclusion: Assessment of LPM in PD patients with CC can be reliably performed using mUSG. Also, mUSG may be used as a screening tool to detect CC-related changes in thickness and echogenicity of the LPM in patients with PD. [ABSTRACT FROM AUTHOR]

Background: Software‐based measurements of axial postural abnormalities in Parkinson's disease (PD) are the gold standard but may be time‐consuming and not always feasible in clinical practice. An automatic and reliable software to accurately obtain real‐time spine flexion angles according to the recently proposed consensus‐based criteria would be a useful tool for both research and clinical practice. Objective: We aimed to develop and validate a new software based on Deep Neural Networks to perform automatic measures of PD axial postural abnormalities. Methods: A total of 76 pictures from 55 PD patients with different degrees of anterior and lateral trunk flexion were used for the development and pilot validation of a new software called AutoPosturePD (APP); postural abnormalities were measured in lateral and posterior view using the freeware NeuroPostureApp (gold standard) and compared with the automatic measurement provided by the APP. Sensitivity and specificity for the diagnosis of camptocormia and Pisa syndrome were assessed. Results: We found an excellent agreement between the new APP and the gold standard for lateral trunk flexion (intraclass correlation coefficient [ICC] 0.960, IC95% 0.913–0.982, P < 0.001), anterior trunk flexion with thoracic fulcrum (ICC 0.929, IC95% 0.846–0.968, P < 0.001) and anterior trunk flexion with lumbar fulcrum (ICC 0.991, IC95% 0.962–0.997, P < 0.001). Sensitivity and specificity were 100% and 100% for detecting Pisa syndrome, 100% and 95.5% for camptocormia with thoracic fulcrum, 100% and 80.9% for camptocormia with lumbar fulcrum. Conclusions: AutoPosturePD is a valid tool for spine flexion measurement in PD, accurately supporting the diagnosis of Pisa syndrome and camptocormia. [ABSTRACT FROM AUTHOR]

Background: Three‐dimensional (3D) human body estimation from common photographs is an evolving method in the field of computer vision. It has not yet been evaluated on postural disorders. We generated 3D models from 2‐dimensional pictures of camptocormia patients to measure the bending angle of the trunk according to recommendations in the literature. Methods: We used the Part Attention Regressor algorithm to generate 3D models from photographs of camptocormia patients' posture and validated the resulting angles against the gold standard. A total of 2 virtual human models with camptocormia were generated to evaluate the performance depending on the camera angle. Results: The bending angle assessment using the 3D mesh correlated highly with the gold standard (R = 0.97, P < 0.05) and is robust to deviations of the camera angle. Conclusions: The generation of 3D models offers a new method for assessing postural disorders. It is automated and robust to nonperfect pictures, and the result offers a comprehensive analysis beyond the bending angle. [ABSTRACT FROM AUTHOR]

Axial postural abnormalities and pain are two main determinants of poor quality of life in patients with Parkinson's disease (PD). Indeed, a detailed characterization of pain and other non-motor symptoms in patients with PAs has not been provided yet. The aim of this study is to assess the phenomenology of pain and other non-motor symptoms in PD patients with Pisa syndrome and camptocormia compared to PD patients without axial postural abnormality. Forty-five PD participants were equally distributed in three groups: patients with Pisa syndrome (PS), patients with Camptocormia (CC), and patients without postural abnormalities (PD). Pain characteristics were assessed by Kings Parkinson's Pain Scale (KPPS), brief pain inventory (BPI), and numeric pain rating scale (NRS). All participants completed clinical assessments by non-motor symptom scale (NMSS), and movement disorder society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) parts II–III. Patients with and without axial postural abnormalities showed one or more types of pain, being fluctuation, nocturnal, chronic, and musculoskeletal the most frequently reported in Pisa Syndrome and camptocormia. PD group compared with PS and CC groups showed differences in the KPPS, NMSS, BPI pain severity and interference, and NRS total scores. No significant differences were found between PS group compared with CC group with exception of the NMSS total scores. PD patients with Pisa syndrome or camptocormia have a higher burden of musculoskeletal, chronic and fluctuation pain than PD patients without axial postural abnormalities, suggesting different etiologies of pain and possible different treatments. [ABSTRACT FROM AUTHOR]

Objective This study aims to develop an automated and objective tool to evaluate postural abnormalities in Parkinson’s disease (PD) patients. Methods We applied a deep learning-based pose-estimation algorithm to lateral photos of prospectively enrolled PD patients (n = 28). We automatically measured the anterior flexion angle (AFA) and dropped head angle (DHA), which were validated with conventional manual labeling methods. Results The automatically measured DHA and AFA were in excellent agreement with manual labeling methods (intraclass correlation coefficient > 0.95) with mean bias equal to or less than 3 degrees. Conclusion The deep learning-based pose-estimation algorithm objectively measured postural abnormalities in PD patients.

Background: Camptocormia is one of the most common postural disorders of Parkinson's disease (PD) which has limited treatment options. In this review, we summarize the efficacy of deep brain stimulation (DBS) for camptocormia in PD. Methods: The PubMed (ht tps://pubmed.ncbi.nlm.nih.gov/) and EMBASE databases (https://www.embase.com/) were searched for the terms "Parkinson Disease" and "camptocormia" in combination with "deep brain stimulation". We then explored the efficacy of DBS for camptocormia by statistical analysis of the bending angle, the Unified Parkinson's Disease Rating Scale III (UPDRS-III) and L-dopa equivalent daily dose (LEDD), and by evaluating the prognosis after DBS. Results: Twenty articles that reported results for 152 patients were included in this review. These comprised 136 patients from 16 studies who underwent subthalamic nucleus deep brain stimulation (STN-DBS), and 13 patients from 3 studies who underwent globus pallidus internus deep brain stimulation (GPi-DBS). One study used both STN-DBS (2 patients) and GPi-DBS (one patient). After 3--21 months of follow-up, the mean bending angle during the Off-period was significantly reduced compared to pre-DBS (31.5 ± 21.4 vs. 53.6 ± 22.7, respectively; p < 0.0001). For the STN-DBS trials, the mean post-operative bending angles during both Off- and On-periods were significantly reduced compared to pre-operative (32.1 ± 22.7 vs. 55.4 ± 24.1, p = 0.0003; and 33.1 ± 21.5 vs. 43.7 ± 20.6, p = 0.0003, respectively). For GPi-DBS, the mean bending angle post-DBS during the Off-period was considerably lower than pre-DBS (28.5 ± 10.7 vs. 42.9 ± 9.9, p < 0.001). The decrease in bending angle after DBS was negatively correlated with the duration of camptocormia (R = -- 0.433, p = 0.013), whereas positively associated with the pre-bending angle (R = 0.352, p = 0.03). Conclusions: DBS is an effective treatment for camptocormia in PD. Patients in the early stage of camptocormia with more significant bending angle may benefit more from DBS. [ABSTRACT FROM AUTHOR]

Background: Pisa syndrome (PS) and camptocormia (CC) are postural abnormalities frequently associated with Parkinson's disease (PD). Their pathophysiology remains unclear, but the role of cognitive deficits has been postulated. Objectives: To identify differences in the neuropsychological functioning of patients with PD with PS or CC compared with matched patients with PD without postural abnormalities. Methods: We performed a case-control study including 57 patients with PD with PS (PS+) or CC (CC+) and 57 PD controls without postural abnormalities matched for sex, age, PD duration, phenotype, and stage. Patients were divided into four groups: PS+ (n = 32), PS+ controls (PS-, n = 32), CC+ (n = 25), and CC+ controls (CC-, n = 25). We compared PS+ versus PS- and CC+ versus CC-using a neuropsychological battery assessing memory, attention, executive functions, visuospatial abilities, and language. Subjective visual vertical (SVV) perception was assessed by the Bucket test as a sign of vestibular function; the misperception of trunk position, defined as a mismatch between the objective versus subjective evaluation of the trunk bending angle >5°, was evaluated in PS+ and CC+. Results: PS+ showed significantly worse visuospatial performances (P = 0.025) and SVV perception (P = 0.038) than their controls, whereas CC+ did not show significant differences compared with their control group. Reduced awareness of postural abnormality was observed in >60% of patients with PS or CC. Conclusions: Low visuospatial performances and vestibular tone imbalance are significantly associated with PS but not with CC. These findings suggest different pathophysiology for the two main postural abnormalities associated with PD and can foster adequate therapeutic and prevention strategies. [ABSTRACT FROM AUTHOR]

Objective: Camptocormia has been considered to contribute to vertical gait instability and, at times, may also lead to forward instability in experimental settings in Parkinson's disease (PD). However, these aspects, along with compensatory mechanisms, remain largely unexplored. This study comprehensively investigated gait instability and compensatory strategies in PD patients with camptocormia (PD+CC)., Methods: Ten PD+CC, 30 without camptocormia (PD-CC), and 27 healthy controls (HCs) participated. Self-paced gait tasks were analyzed using three-dimensional motion capture systems to assess gait stability, spatiotemporal, and kinematic parameters. Unique cases with pronounced forward gait stability or instability were first identified, followed by group comparisons. Correlation analysis was performed to examine associations between trunk flexion angles (lower/upper) and gait parameters. Significance level was set at 0.05., Results: Excluding one unique case, the PD+CC group showed a significantly lower vertical center of mass (COM) position (p=0.019), along with increased mediolateral COM velocity (p=0.004) and step width (p=0.013), compared to PD-CC group. Both PD groups showed higher anterior-posterior margin of stability than HCs (p<0.001). Significant correlations were found between lower/upper trunk flexion angles and a lower vertical COM position (r=-0.690/-0.332), as well as increased mediolateral COM velocity (r=0.374/0.446) and step width (r=0.580/0.474)., Conclusions: Most PD+CC patients exhibited vertical gait instability, increasing fall risk, and adopted compensatory strategies involving greater lateral COM shift and wider base of support, with these trends intensifying as trunk flexion angles increased. These findings may guide targeted interventions for gait instability in PD+CC.

LOPD refers to the remaining patients with Pompe disease onset less than 12 months without cardiomyopathy or onset after 12 months. Pompe disease (OMIM 232300) is an autosomal recessive metabolic disorder caused by the deficiency of the acid alpha-glucosidase (GAA), a lysosome enzyme that hydrolyses glycogen to glucose and is encoded by the I GAA i gene.1 Pompe disease is classified into two categories: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). Therefore, we proposed a differential diagnosis of LOPD and measure GAA enzyme activity in young patients who have an unexplained basilar aneurysm or dilative arteriopathy of intracranial vertebral and basilar arteries. [Extracted from the article]

Here we report on a patient with Parkinson's Disease and camptocormia due to Myofibrillar Myopathy Type 3. By leading the reader through the clinical reasoning process and highlighting the respective red flags we aim to increase the readers' awareness for the differential diagnosis of camptocormia. [ABSTRACT FROM AUTHOR]

The article "PHYSIOTHERAPEUTIC APPROACHES FOR CAMPTOCORMIA IN PARKINSON'S DISEASE - A SYSTEMATIC REVIEW" published in the journal Movimenta addresses camptocormia in Parkinson's Disease. Camptocormia is an abnormal flexion of the thoracolumbar spine, with treatments that include physiotherapy, drug therapy, and stimulation of the subthalamic nucleus. Muscle strengthening exercises, stretching, and neuromodulation were effective in reducing camptocormia in Parkinson's Disease. [Extracted from the article]

Background: There is no consensus with regard to the nosology and cut‐off values for postural abnormalities in parkinsonism. Objective: To reach a consensus regarding the nosology and cut‐off values. Methods: Using a modified Delphi panel method, multiple rounds of questionnaires were conducted by movement disorder experts to define nosology and cut‐offs of postural abnormalities. Results: After separating axial from appendicular postural deformities, a full agreement was found for the following terms and cut‐offs: camptocormia, with thoracic fulcrum (>45°) or lumbar fulcrum (>30°), Pisa syndrome (>10°), and antecollis (>45°). "Anterior trunk flexion," with thoracic (≥25° to ≤45°) or lumbar fulcrum (>15° to ≤30°), "lateral trunk flexion" (≥5° to ≤10°), and "anterior neck flexion" (>35° to ≤45°) were chosen for milder postural abnormalities. Conclusions: For axial postural abnormalities, we recommend the use of proposed cut‐offs and six unique terms, namely camptocormia, Pisa syndrome, antecollis, anterior trunk flexion, lateral trunk flexion, anterior neck flexion, to harmonize clinical practice and future research. [ABSTRACT FROM AUTHOR]

Further reports are required to describe the outcome of truncal dystonia treated by bilateral pallidal stimulation (globus pallidus interna deep brain stimulation [GPi-DBS]), owing to the small number of reports and clinical variability and complexity of truncal dystonia. Retrospectively, we report our experience of treating three patients with idiopathic generalized dystonia, with predominant mobile truncal dystonia by bilateral GPi-DBS. Three patients with idiopathic generalized dystonia underwent bilateral GPi-DBS. One patient had adult-onset dystonia, while two patients had childhood-onset dystonia. All patients had predominant mobile truncal dystonia of mixed abnormal postures (camptocormia and lateral tilt), while one patient had also truncal twist. Patients were assessed pre- and post-GPi-DBS using the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS) and Dystonia Disability Scale (DDS). The three patients showed marked improvement of global (94.78%, 92.4% and 80.95%) and truncal BFMDRS (all abnormal postures) (87.5%, 93.75% and 87.5%) and DDS (95.84% and 50%), using high amplitude monopolar settings, with a dramatic improvement of the mobile component. Improvement was persistent for 1.5, 3 and 6 years. Bilateral GPi-DBS improves markedly the mobile truncal dystonia and associated abnormal postures in patients with adult and childhood-onset idiopathic generalized dystonia. Improvement was persistent for up to 6 years. [ABSTRACT FROM AUTHOR]

Abstract Background Camptocormia is common in patients with multiple system atrophy (MSA). The current study was aimed at assessing the frequency of camptocormia and its related factors in MSA patients with different disease durations. Also, the impact of camptocormia on disability was evaluated. Methods A total of 716 patients were enrolled in the study. They were classified into three groups based on disease duration (≤ 3, 3–5, ≥ 5 years). Specific scales were used to evaluate the motor and non-motor symptoms. Disease severity was assessed using the Unified Multiple System Atrophy Rating Scale (UMSARS). The binary logistic regression model was used to explore the factors related to camptocormia. To analyze the impact of camptocormia on disability in patients with disease duration less than 5 years, propensity score matching (PSM) and stratified Cox regression analysis were used. Results In the current study, we found that the frequency of camptocormia was 8.9, 19.7 and 19.2% when the disease duration was ≤3, 3–5, ≥ 5 years, respectively. In the disease duration ≤3 years group, we found that MSA-parkinsonian subtype (MSA-P) (OR = 2.043, P = 0.043), higher total UMSARS score (OR = 1.063, P

BackgroundCamptocormia is a postural deformity that is characterized by a markedly flexed lumbar spine, with symptoms that worsen with walking and standing. Here, we report a case of camptocormia associated with Parkinson’s disease.Case descriptionA 70-year-old man with a 7-year history of Parkinson’s disease presented with a fall injury that caused lower back pain for 3 months and was aggravated for 2 months. He had been diagnosed with a compression fracture after the fall and had undergone percutaneous kyphoplasty at a local hospital. MRI showed non-union of the L1 vertebra and compression fracture of L2. The patient underwent posterior osteotomy, canal decompression, and internal fixation of the T10-L3 intervertebral plate with bone graft fusion. Postoperative examination showed that the lumbar lordosis was corrected and sensation was restored in both lower extremities. However, after 1 month, the fixation was loosened and a correction surgery was performed at our hospital. At the most recent follow-up at 1.5 years, the patient was found to be in good general health and did not complain of lower back discomfort. He was also actively exercising according to the rehabilitation regimen and had resumed social life.ConclusionThis is a rare case of camptocormia in a Parkinson’s patient that highlights the need for careful evaluation of whether internal spinal fixation surgery is beneficial in such patients.

GPi, globus pallidus interna. gl Discussion Dystonic camptocormia treated with GPi-DBS has been scarcely reported2,3 and this is the first report on overnight stimulation switch-off to successfully resolve tolerance in a dystonic camptocormia patient. Temporary Stimulation Switch-off Successfully Applied in a Dystonic Camptocormia Patient Camptocormia is a disabling postural abnormality characterized by marked forward flexion of the thoracolumbar spine, which escalates during standing and walking but relieves in the recumbent position.1 Although there is no established consensus for treatment of camptocormia, case series suggested that deep brain stimulation (DBS) of the globus pallidus interna (GPi) was effective in dystonic camptocormia.2,3 Here we present one patient with severe camptocormia as part of generalized dystonia, treated with GPi-DBS. [Extracted from the article]

GBA variants are associated with increased risk and earlier onset of Parkinson's disease (PD), and more rapid disease progression especially with "severe" variants typified by p.L483P. GBA mutation screening studies from South-East Asia, with > 650 million inhabitants of diverse ancestries, are very limited. We investigated the spectrum of GBA variants, and associated clinico-demographic features, in a multi-ethnic PD cohort in Malaysia. Patients (n = 496) were recruited from seven centres, primarily of Chinese (45%), Malay (37%), and Indian (13%) ethnicities. All GBA coding exons were screened using a next-generation sequencing-based PD gene panel and verified with Sanger sequencing. We identified 14 heterozygous GBA alleles consisting of altogether 17 missense variants (8 classified as pathogenic or likely pathogenic for PD) in 25 (5.0%) patients, with a substantially higher yield among early (< 50 years) vs. late-onset patients across all three ethnicities (9.1–13.2% vs. 1.0–3.2%). The most common variant was p.L483P (including RecNciI, n = 11, 2.2%), detected in all three ethnicities. Three novel variants/recombinant alleles of uncertain significance were found; p.P71L, p.L411P, and p.L15S(;)S16G(;)I20V. The common European risk variants, p.E365K, p.T408M, and p.N409S, were not detected. A severe disease course was noted in the majority of GBA-variant carriers, across a range of detected variants. We report a potentially novel observation of spine posture abnormalities in GBA-variant carriers. This represents the largest study on GBA variation from South-East Asia, and highlights that these populations, especially those with EOPD, would be relevant for studies including clinical trials targeting GBA pathways. [ABSTRACT FROM AUTHOR]

Background: Antecollis is defined as an involuntary forward flexion of the neck. Previous reports have measured the neck flexion angles based on the line perpendicular to the ground. This led to an inflation of the neck flexion angles in patients who had combined forward truncal flexions, especially upper camptocormia. Methods: We examined the neck flexion angles and the upper camptocormia angle in the published photographs of antecollis. MEDLINE search was conducted using the following search terms: antecollis OR anterocollis. Lateral-view photographs of patients diagnosed with antecollis were collected. Neck flexion angles were measured with the classic 'perpendicular method' and the 'antecollis method' we developed. Results: Nine patient photographs were identified. While antecollis was the only described postural abnormality in eight cases, these patients exhibited upper camptocormia angles of 45° or larger. The mean neck flexion angle measured with the antecollis method was 49.7°, while the perpendicular method yielded 103.4°. Discussion: Upper camptocormia should be considered in the evaluation of antecollis. We propose a new method to measure neck flexion in relation to the torso, instead of the vertical line. [ABSTRACT FROM AUTHOR]

Background: Filamin C (FLNC) is an actin crosslinking protein that provides structural support for the sarcomere. The exact function of FLNC is unknown; however, mutations have been reported in myopathies and cardiomyopathies, but rarely both. In this paper, we describe a case of adult-onset camptocormia, proximal myopathy, and cardiomyopathy and an intronic FLNC mutation. Case Report: A 56-year-old man was referred to the neurology clinic for truncal weakness. The patient reported having curvature of his spine, which he said his mother also had prior to her dying suddenly due to a "cardiac issue." The patient was found to have fatty infiltration of the periscapular and paraspinal muscles. Additionally, electromyography revealed irritable myopathy of the paraspinal muscles, and an echocardiogram revealed an ejection fraction of 40%. A genetic panel conducted through PerkinElmer Genomics revealed a heterozygous mutation c.1210+3A>G in the intron region of FLNC. Due to his low ejection fraction and family history of sudden cardiac death, he received an implantable cardioverter-defibrillator and began carvedilol. The patient received physical therapy for camptocormia. Conclusions: The variability in genotypic-phenotypic relationships of FLNC mutations is a growing area of research. It is important to increase awareness to further the development of gene-targeted therapies. We hope this unique clinical presentation of co-occurring skeletal and cardiomyopathy secondary to an intronic mutation will increase awareness of the broad phenotypic spectrum of FLNC mutations. [ABSTRACT FROM AUTHOR]

Background: Presence of truncal dystonia usually points to a secondary cause of dystonia like exposure to dopamine receptor blockers or neurodegenerative illness. Rarely, it can occur as an idiopathic focal or segmental dystonia. Methods: Retrospective review of medical records and videos of patients of truncal dystonia presenting in the Botulinum Toxin Clinic of Department of Neurology at Post Graduate Institute of Medical Education and Research, Chandigarh between May 2016 and February 2019. Results: A total of 16 patients with predominant truncal dystonia were recruited. There were ten males and six females with mean age of 49.1 ± 15.1 years (range 22–70). Extensor truncal dystonia was the most common (12/16) followed by camptocormia (4/16). Various etiologies included Idiopathic Parkinson’s disease (4/16), Tardive dystonia (5/16), Neurodegeneration with brain iron accumulation (genetically confirmed) (2/16) and idiopathic (5/16). All patients were refractory to a combination of oral medications tried over a period of 1.82 ± 1.93 years. All patients received electromyographic-guided botulinum toxin in paraspinals or rectus abdominis muscles depending upon the type of dystonia. The mean dose of abobotulinum toxin used was 286.7 ± 108.6 units (range 200–500 units) for paraspinals and 297.5 ± 68.5 (range 200–350) for rectus abdominis muscles per session. Average subjective response after botulinum toxin injection session was 31.2 ± 21.5% (range 0–70). No adverse effects were reported. Conclusion: Botulinum toxin is an acceptable alternative to patients presenting with medically refractory truncal dystonia and may offer modest benefit.

The analysis was presentedabout the dynamics of the functional and psychological state and quality of life of patients with trunk deformities in Parkinson’s diseaseusing Dysport. The optimal regimens was reflected about the administration of botulinum toxin for patients with camptocormia and Pisa syndrome.

Axial myopathy can be the underlying cause of rapidly progressive adult-onset scoliosis; however, the pathogenesis of this disorder remains poorly understood. Here we present a case of a 69-year old woman with a family history of scoliosis affecting both her mother and her son, who over 4 years developed rapidly progressive scoliosis. The patient had a history of stable scoliosis since adolescence that worsened significantly at age 65, leading to low back pain and radiculopathy. Paraspinal muscle biopsy showed morphologic evidence of a mitochondrial myopathy. Diagnostic deficiencies of electron transport chain enzymes were not detected using standard bioassays, but mitochondrial immunofluorescence demonstrated many muscle fibers totally or partially deficient for complexes I, III, IV-I, and IV-IV. Massively parallel sequencing of paraspinal muscle mtDNA detected multiple deletions as well as a 40.9% heteroplasmic novel m.12293G > A (MT-TL2) variant, which changes a G:C pairing to an A:C mispairing in the anticodon stem of tRNA Leu(CUN). Interestingly, these mitochondrial abnormalities were not detected in the blood of either the patient or her son, suggesting that the patient's rapidly progressive late onset scoliosis was due to the acquired paraspinal mitochondrial myopathy; the cause of non-progressive scoliosis in the other two family members currently remains unexplained. Notably, this case illustrates that isolated mitochondrial myopathy can underlie rapidly-progressive adult-onset scoliosis and should be considered in the differential diagnosis of the primary axial myopathy.

Abstract Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies. In sporadic late onset nemaline myopathy concomitant axial myopathy is common, but reports about camptocormia as the only presenting symptom in this condition are very rare. Notably, sporadic late onset nemaline myopathy is a potentially treatable condition in particular when associated with monoclonal gammopathy of unknown significance, HIV or rheumatological disorders. Case presentation We report the case of a 62-year-old female patient, who presented with slowly progressive camptocormia. Comprehensive work-up including neurological work-up, laboratory tests, MR-imaging, muscle biopsy and genetic testing led to the diagnosis of sporadic late onset nemaline myopathy. Conclusions Our case report highlights that sporadic late onset nemaline myopathy has to be considered in patients presenting with isolated camptocormia and comprehensive work-up of camptocormia is mandatory to ascertain the individual diagnosis, especially in consideration of treatable conditions.

El síndrome de la espalda inclinada o camptocormia es una causa de desequilibrio sagital del tronco no estructurada de difícil manejo médico y quirúrgico. Puede ser secundario a enfermedades del sistema nervioso central o periférico, o de origen primario muscular, como la atrofia aislada de la musculatura paravertebral espinal. El diagnóstico se basa en la evaluación clínica, los estudios por imágenes, el electromiograma y la biopsia muscular. El síndrome de la espalda inclinada, cualquiera fuera su causa, tiene un pronóstico pobre, los síntomas suelen progresar hasta afectar la bipedestación de manera irreversible. Presentamos un análisis retrospectivo de cuatro casos de síndrome de la espalda inclinada tratados en nuestro centro y una revisión de la bibliografía. Abstract Introduction: The bent spine syndrome (BSS) or camptocornia is a cause of unstructured sagittal imbalance of difficult medical and surgical management. Objective: To describe the causes of BSS and how to approach its treatment. Materials and Methods: Retrospective analysis of 4 cases of BSS treated at our center and review of the literature. Results: The 4 cases were women between 60 and 82 years of age, 3 due to an isolated atrophy of the paravertebral spinal erectorae musculature and 1 case due to an inflammatory myopathy. Conclusions: The prognosis of any BSS is poor, so the symptoms usually progress to irreversible difficulty to maintain upright posture.

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• Isolated camptocormia in a heterozygous carrier of the 759_761 CAPN3 deletion. • 759_761 CAPN3 deletion causes loss of a single lysine in CAPN3 catalytic domain. • Lys254del CAPN3 abolishes both autolytic and proteolytic CAPN3 activity. • Consider dominant calpainopathy in the differential diagnosis of late camptocormia. Camptocormia is defined by a pathological involuntary flexion of the thoracic and lumbar spine that is fully reducible in the supine position. Although originally described as a manifestation of conversion disorder, it is more commonly caused by a wide range of neurological diseases, in particular movement and neuromuscular disorders. We describe here a rare case of late onset camptocormia caused by autosomal dominant calpainopathy due to a heterozygous in-frame deletion in CAPN3 leading to loss of a single lysin amino acid in the catalytic domain of calpain-3. Creatine kinase levels, electromyography, and thigh muscle MRI were normal. Muscle biopsy did not show lobulated fibers and calpain-3 protein expression was not decreased, but in vitro functional assays showed impaired proteolytic function of. Lys254del CAPN3. Autosomal dominant calpainopathy should be considered in the differential diagnosis of late onset camptocormia and unexplained paravertebral myopathies even in presence of normal creatine kinase levels, and in absence of lobulated fibers, of decreased calpain-3 protein expression, and of muscle limb involvement. [ABSTRACT FROM AUTHOR]

Background: Camptocormia is common in patients with multiple system atrophy (MSA). The current study was aimed at assessing the frequency of camptocormia and its related factors in MSA patients with different disease durations. Also, the impact of camptocormia on disability was evaluated.Methods: A total of 716 patients were enrolled in the study. They were classified into three groups based on disease duration (≤ 3, 3-5, ≥ 5 years). Specific scales were used to evaluate the motor and non-motor symptoms. Disease severity was assessed using the Unified Multiple System Atrophy Rating Scale (UMSARS). The binary logistic regression model was used to explore the factors related to camptocormia. To analyze the impact of camptocormia on disability in patients with disease duration less than 5 years, propensity score matching (PSM) and stratified Cox regression analysis were used.Results: In the current study, we found that the frequency of camptocormia was 8.9, 19.7 and 19.2% when the disease duration was ≤3, 3-5, ≥ 5 years, respectively. In the disease duration ≤3 years group, we found that MSA-parkinsonian subtype (MSA-P) (OR = 2.043, P = 0.043), higher total UMSARS score (OR = 1.063, P < 0.001), older age of onset (OR = 1.047, P = 0.042), and lower score on the frontal assessment battery (FAB) (OR = 0.899, P = 0.046) were associated with camptocormia. Only greater disease severity was associated with camptocormia in the group of patients with disease duration 3-5 years (OR = 1.494, P = 0.025) and in the group of patients with disease duration ≥5 years (OR = 1.076, P = 0.005). There was no significant impact of camptocormia on disability in patients with a disease duration of < 5 years (HR = 0.687, P = 0.463).Conclusion: The frequency of camptocormia increased with prolonged disease duration. Disease severity was related to camptocormia at different stages of the disease. The MSA-P subtype, older age of onset, and lower FAB score were associated with camptocormia in the early stage of the disease. [ABSTRACT FROM AUTHOR]

Introdução: A camptocormia (flexão anterior da coluna toraco-lombar) é um diagnóstico secundário a causas neurológicas (particularmente à doença de Parkinson), causas ortopédicas e outras (intoxicação farmacológica e síndromas paraneoplásicos). Quando associada a doenças neurológicas, esta reverte integralmente se o utente assumir o decúbito dorsal, o que não se verifica quando a causa é ortopédica. Este achado puramente clínico é fulcral para a referenciação de um utente da forma mais correta e tomada de decisão sobre o plano a adotar. Descrição do caso: Homem de 65 anos, sem antecedentes de relevo ou uso de medicação habitual. Observado em consulta de neurologia, entrando no consultório com marcada flexão anterior da coluna toraco-lombar (camptocormia). O utente foi previamente orientado pelo médico de família para consulta de ortopedia por esta queixa, com imagiologia de achatamento em cunha da vértebra T12. Também acompanhado por medicina física e reabilitação que, após tratamento fisiátrico, o referencia à neurologia por suspeita de causa neurológica da camptocormia. Ao exame objetivo apresentava camptocormia marcada que não revertia no decúbito dorsal. Sem tremor, rigidez, discinésia ou outros sintomas extrapiramidais. Sem incontinência esfincteriana. Comentário: A referenciação de casos de camptocormia pode ser complexa, permitindo a abordagem holística do utente compreender a sua globalidade e a dos seus sintomas, ponderando os achados indicativos da causa primária do problema. Neste caso, a não reversão da camptocormia com o decúbito dorsal, a ausência de tremor/sintomas extrapiramidais e a documentação imagiológica de possível causa ortopédica tornam a referenciação à consulta de neurologia menos pertinente que a referenciação feita pelo médico de família para consulta de ortopedia. Podemos, assim, gerir de forma mais profícua a situação do utente e as suas expectativas quanto à resolução do problema. Foi dado pelo utente o consentimento informado, livre e esclarecido para a recolha de dados clínicos e imagens fotográficas, assim como para publicação.

Background: Postural abnormalities in Parkinson's disease (PD) form a spectrum of functional trunk misalignment, ranging from a “typical” parkinsonian stooped posture to progressively greater degrees of spine deviation.Objective: To analyze the association between degree of postural abnormalities and disability and to determine cut-off values of trunk bending associated with limitations in activities of daily living (ADLs), motor impairment, falls, and back pain.Methods: The study population was 283 PD patients with ≥5° of forward trunk bending (FTB), lateral trunk bending (LTB) or forward neck bending (FNB). The degrees were calculated using a wall goniometer (WG) and software-based measurements (SBM). Logistic regression models were used to identify the degree of bending associated with moderate/severe limitation in ADLs (Movement Disorders Society Unified PD Rating Scale [MDS-UPDRS] part II ≥17), moderate/severe motor impairment (MDS-UPDRS part III ≥33), history of falls (≥1), and moderate/severe back pain intensity (numeric rating scale ≥4). The optimal cut-off was identified using receiver operating characteristic (ROC) curves.Results: We found significant associations between modified Hoehn & Yahr stage, disease duration, sex, and limitation in ADLs, motor impairment, back pain intensity, and history of falls. Degree of trunk bending was associated only with motor impairment in LTB (odds ratio [OR] 1.12; 95% confidence interval [CI], 1.03–1.22). ROC curves showed that patients with LTB of 10.5° (SBM, AUC 0.626) may have moderate/severe motor impairment.Conclusions: The severity of trunk misalignment does not fully explain limitation in ADLs, motor impairment, falls, and back pain. Multiple factors possibly related to an aggressive PD phenotype may account for disability in PD patients with FTB, LTB, and FNB.