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Introduction/Aims: Hyperexcitable peripheral nerve disorders (HPNDs) are rare. Although their clinical and laboratory features have been well studied, information on treatment and follow‐up is limited. The aim of this study is to explore the long‐term clinical, investigative, and therapeutic profile of patients with acquired HPNDs. Methods: This study retrospectively analyzed patients from a single tertiary care center with HPND (January 2012 to January 2022). Patients were recruited according to published inclusion and exclusion criteria. Details of clinical features, diagnostic tests, therapeutic interventions, and follow‐up were recorded. This study included patients with follow‐up of 2 or more years. Results: A total of 32 patients (M = 26, F = 6) were studied. The common clinical features included myokymia, neuropathic or shock‐like pain, cramps, sleep disturbances, encephalopathy, cerebellar ataxia, and seizures. A total of 81.25% of patients responded favorably to corticosteroids and membrane stabilizers. Among the nonresponders, five received intravenous immunoglobulin (IVIG), and one received plasma exchange (PLEX). Two patients required rituximab due to poor responses to the above treatments. The mean duration of response was 6 weeks (4–24 weeks) from the initiation of treatment. All patients had favorable outcomes, reaching clinical remission within 1–5 years from the initiation of treatment. Only two patients had relapses. Immunotherapy could be stopped in 78% of patients within 3 years and 100% by 5 years. Discussion: Chronic immunosuppression starting with corticosteroids is required for satisfactory outcomes of HPNDs. These disorders usually run a monophasic course, and relapses are uncommon. [ABSTRACT FROM AUTHOR]

Byline: Satish. Khadilkar, Narayan. Deshmukh, Neha. Shah, Sunila. Jaggi, Khushnuma. Mansukhani, Bhagyadhan. Patel, Sonali. Shah, Sarika. Patil, Vanaja. Shetty Background and Aims: A wide variety of neurological diseases result in [...]

Byline: Satish. Khadilkar, Nikhil. Kadam, Rahul. Kulkarni, Chandrashekhar. Meshram, Archana. Meshram, Bhagyadhan. Patel, Akash. Chheda Aim: This questionnaire-based national survey is aimed at understanding the patterns of practice of various [...]

Byline: Bhagyadhan. Patel, Rahul. Chakor, Swaleha. Nadaf, Kaumil. Kothari A 47-year-old female presented with subacute onset progressive backache, severe lancinating pain radiating to lower limbs, and bowel/bladder dysfunction over a [...]

Introduction: Chronic immune polyradiculopathies (sensory, motor, and mixed) are uncommon.Methods: In this single-center, retrospective study, the inclusion criteria for participants were progressive sensory ataxia and/or areflexic limb weakness; tibial somatosensory evoked potential (SSEP) abnormalities of the N22 and P40 potentials with normal sensory and motor nerve conduction studies or root involvement, according to magnetic resonance imaging (MRI); and albuminocytological dissociation.Results: Eight patients were included in our study. Two had weakness, two had sensory ataxia, and four had both weakness and ataxia. Patients with weakness had abnormal SSEPs and patients with sensory ataxia also had absent F waves. Electromyography showed chronic denervation. MRI scans confirmed thickening and enhancement of roots. The patients responded to corticosteroid treatment.Discussion: The overlapping clinicoelectrophysiological findings and similarities in radiological and therapeutic responses suggest that these entities are clinical variants of the same disease. The terms CIS(m)P, CI(s)MP, and CISMP (for chronic immune sensory motor polyradiculopathy) could be used to denote the predominant clinical involvement. [ABSTRACT FROM AUTHOR]

The expansion of the spectrum of limb girdle muscular dystrophies (LGMDs) in recent years means that neurologists need to be familiar with the clinical clues that can help with their diagnosis. The LGMDs comprise a group of genetic myopathies that manifest as chronic progressive weakness of hip and shoulder girdles. Their inheritance is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). Their prevalence varies in different regions of the world; certain ethnic groups have documented founder mutations and this knowledge can facilitate the diagnosis. The clinical approach to LGMDs uses the age at onset, genetic transmission and clinical patterns of muscular weakness. Helpful clinical features that help to differentiate the various subtypes include: predominant upper girdle weakness, disproportionate respiratory muscle involvement, distal weakness, hip adductor weakness, 'biceps lump' and 'diamond on quadriceps' sign, calf hypertrophy, contractures and cardiac involvement. Almost half of patients with LGMD have such clinical clues. Investigations such as serum creatine kinase, electrophysiology, muscle biopsy and genetic studies can complement the clinical examination. In this review, we discuss diagnostic clinical pointers and comment on the differential diagnosis and relevant investigations, using illustrative case studies. [ABSTRACT FROM AUTHOR]

Background: Charcot–Marie–Tooth (CMT) disease is clinically and genetically heterogeneous. There are no published series describing clinical, electrophysiological, and genetic information on CMT from the Indian subcontinent. Magnetic resonance imaging (MRI) neurography technique provides useful information about the plexus and roots and can be employed in patients with CMT. Settings and Design: A prospective, observational study carried out at a tertiary care hospital in Western India. Subjects and Methods: CMT patients fulfilling the UK Genetic Testing Network criteria were included. They underwent clinical, electrophysiological, radiological, and multigene panel testing. Results: Totally 22 patients (19 males, 3 females; 18 sporadic and 4 familial cases) were studied. Pes cavus (19), hammer toes (16), and scoliosis was seen in 1 patient. Electrophysiology revealed motor predominant neuropathy with 15 demyelinating (10 uniform and 5 multifocal) and 7 axonal patterns. Thickened lumbosacral plexuses on MRI neurography were evident in 6/10 studied patients, all 6 having demyelinating neuropathy. Genetic analysis identified PMP22, GJB1, SH3TC2, HSPB1, SPTLC2, MPZ, AARS, and NEFH gene mutations. Conclusions: This small series documents the pattern of CMT neuropathies as seen in Western India. Clinico‑electrophysiological and genetic diagnosis showed general concordance some overlaps and reiterated advantages of gene panel testing in this heterogeneous group of neuropathies. MRI neurography was useful as an additional investigation to detect nerve enlargement in patients with demyelinating neuropathies. [ABSTRACT FROM AUTHOR]

Background Dynamic changes in cervical spine during flexion is a proposed mechanism for Hirayama disease [HD], a localized form of anterior horn cell disorder. Apparent shortening of dura as compared to vertebral column leading to dural shift on flexion is considered to be the primary mechanism in this hypothesis. Whether this disproportion is a result of short dura or longer cervical segment is not known and neck length has not been studied in HD. Also, all patients with segmental motor weakness and wasting of upper limbs do not show dural changes; hence comparative evaluation of HD and its mimics is important. Material and methods Patients with segmental wasting and weakness limited to upper limbs were subjected to flexion MRI. A special pillow was designed to provide fixed flexion angle of 35°. Patients showing dural changes formed the HD group while rest formed the non-HD group [mimics]. Both groups were analyzed on clinical, electrophysiological and radiological parameters. Whole spine to neck ratio of patients in HD group was compared to the non-HD group and age matched controls. Results and conclusions Patients with HD had longer cervical segments as compared to the non-HD group and age matched controls [p = 0.001]. The longer cervical segment, in combination with dural changes probably contributes to the pathophysiology of dynamic flexion hypothesis of HD and the onset around the growth spurt. Patients with HD had cold paresis and finger extensors were consistently weaker than flexors. Apart from longer necks, cold paresis and pattern of weakness may help to differentiate HD from its mimics. [ABSTRACT FROM AUTHOR]

A 23-year-old male patient presented with cognitive decline and seizures. Examination revealed Chvostek's and Trousseau's signs. Investigations revealed hypocalcaemia, hyperphosphatemia and normal intact parathyroid hormone levels. Imaging showed calcifications in bilateral basal ganglia, thalamus and dentate nuclei. Interictal electroencephalogram showed theta range slowing of background activity and bilateral temporooccipital, irregular, sharp and slow wave discharges, which accentuated during hyperventilation, photic stimulation and eye closure. Appearance of epileptiform discharges after eye closure, hyperventilation and photic stimulation may suggest presence of central neural hyperexcitability due to hypocalcaemia. These features may be an equivalent of peripheral neuromuscular hyperexcitability (Chvostek's and Trousseau's signs) that occurs in hypocalcaemia. The clinical and electroencephalographic features completely reversed with correction of serum calcium without antiepileptic medications. It is important for clinicians to recognise these reversible changes, as it can help to avoid misdiagnosis and long-term administration of antiepileptic becomes unnecessary. [ABSTRACT FROM AUTHOR]

Introduction: Immune-mediated demyelinating radiculopathies restricted to proximal sensory or motor roots are uncommon.Methods: We report the clinical, electrophysiological, biochemical, and radiological features in 2 patients with chronic immune sensorimotor polyradiculopathy (CISMP).Results: The patients presented with sensory ataxia, weakness of the lower limbs, and areflexia. Electrophysiological studies revealed involvement of proximal sensorimotor roots, as evidenced by changes in somatosensory evoked potentials, F-waves, and H-reflexes. In contrast, the distal nerve segments were normal. Magnetic resonance neurography findings of thickened and enhanced roots supported the electrophysiological findings. The response to immunosuppressive therapy was favorable in both patients.Conclusion: The findings from these 2 patients further expand the knowledge spectrum of immune polyradiculopathies. Muscle Nerve 55:135-137, 2017. [ABSTRACT FROM AUTHOR]