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Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India., Competing Interests: There are no conflicts of interest.

Purpose: Nerve disorders are commonly encountered in clinical practice. Ultrasonography (USG) is a useful modality in the evaluation of most of the peripheral and superficial pathologies amenable to penetration by ultrasound. The primary objective is to study the USG findings of various peripheral nerve pathologies and to correlate them with electrophysiological (EMG-NCV) findings., Method: 42 patients referred with suspicion of peripheral nervous system affection were evaluated with USG along with EMG-NCV. After reviewing detailed anatomy of the region, the affected nerve was visualized along the major neurovascular bundle or at a known anatomical landmark with a high-frequency (9-20 MHz) linear/hockey stick transducer., Results: The USG parameters, namely loss of fibrillary pattern, hypoechogenicity and nerve thickening, showed significant p value ( p  < 0.05) on the tests of significance, suggesting these parameters are significant predictors of nerve affection/pathology on USG. Each ultrasound parameter was correlated individually with SNAP and CMAP. The results revealed positive correlation of echogenicity ( r  = 0.210, p  = 0.05), fibrillary pattern ( r  = 0.209, p  = 0.05) and thickening ( r  = 0.387, p  < 0.05) with sensory nerve action potential (SNAP) and compound muscle action potential (CMAP)., Conclusion: USG can be used as corroborative investigation to strengthen the findings of EMG-NCV. This combination represents a powerful tool in enabling appropriate planning for treatment, preventing unnecessary intervention and thus improving overall outcomes in patients with peripheral neuropathy.

The aim of this study is to describe the clinical presentation of central skull base osteomyelitis and to discuss the classical imaging findings and various diagnostic and therapeutic challenges faced in the management of this condition. This is a retrospective analysis of inpatient case records, carried out in a multidisciplinary tertiary care hospital. The study subjects included five elderly diabetic patients presenting to the ENT surgeon or neurologist with headache followed by multiple cranial nerve paralysis with no temporal bone involvement in four patients and a past history of otitis externa in one patient. These patients were diagnosed to have an infective pathology of the central skull base detected by imaging and confirmed by biopsy in three. All were treated successfully with antibiotics administered for an average period of 6 weeks. Three patients followed up over 4 years and showed no relapses. One succumbed to other medical co morbidities after 8 months and one diagnosed a month prior is still under follow up. A symptom complex of headache and cranial neuropathies usually raises the suspicion of malignancy. Central skull base osteomyelitis, a relatively uncommon pathology, must also be considered as a possible differential diagnosis despite absence of a definite septic focus. Imaging studies showing bony destruction and adjacent soft tissue involvement should raise the suspicion of this clinical entity. Malignancy needs to be ruled out by biopsy. Early diagnosis and prompt initiation of antibiotics administered for an adequate duration is of paramount importance in successfully treating these patients. A multidisciplinary approach is needed for a successful outcome.

Background and Purpose: Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known. This study evaluates the utility of two known founder mutations as a first-line diagnostic test for LGMD2A in the Agarwals., Materials and Methods: The Agarwals with limb-girdle muscular dystrophy (LGMD) phenotype were analyzed for two founder alleles (intron 18/exon 19 c.2051-1G>T and exon 22 c.2338G>C). Asymptomatic first-degree relatives of patients with genetically confirmed mutations and desirous of counseling were screened for founder mutations., Results: Founder alleles were detected in 26 out of 29 subjects with LGMD phenotype (89%). The most common genotype observed was homozygous for exon 22 c.2338 G>C mutation followed by compound heterozygosity. Single founder allele was identified in two. Single allele was detected in two of the five asymptomatic relatives., Conclusion: Eighty-nine percent of the Agarwals having LGMD phenotype have LGMD2A resulting from founder mutations. Founder allele analysis can be utilized as the initial noninvasive diagnostic step for index cases, carrier detection, and counseling.

Chronic meningitis is a common clinical problem. Early diagnosis and appropriate therapy is important in improving the overall outcome and to prevent long-lasting sequels. As many etiological agents lead to the development of chronic lymphocytic meningitis, it is important to develop a systematic approach to the diagnosis; taking clues from history, examination and laboratory tests, to make an accurate diagnosis and institute appropriate therapy. This review focuses on the diagnostic approach towards the commonly encountered situation of chronic lymphocytic meningitis. Chronic meningitis is defined as meningeal inflammation that persists for more than 4 weeks. Chronic meningitis accounts for less than 10% of all the cases of meningitis.1 Causes of chronic lymphocytic meningitis are mainly divided into infectious and non-infectious listed in Table 1.2 Due to advancement in investigations, diseases causing chronic meningitis may be diagnosed earlier than 4 weeks and hence the definition should be considered as a rough guideline., (© Journal of the Association of Physicians of India 2011.)

Introduction: 'Pushing the wall' has found acceptance in medical teachings. Other methods of scapular winging are less known. Comparative evaluation of the five available methods has not been undertaken. This study focuses on evaluation of the available methods in groups of neuromuscular disorders to select the most sensitive method and to characterize patterns of scapular winging. A survey of methods practiced by clinicians also forms a part of the study., Materials and Methods: Prospective study. Part A: questionnaire based survey of clinicians to explore the preferred method of examination for scapular winging. Part B: comparative analysis of five methods of scapular winging in four categories of neuromuscular disorders [facioscapulohumeral muscular dystrophy (FSHD), limb girdle muscular dystrophy, dystrophinopathies and neurogenic disorders]., Results and Conclusions: Forward lowering of arms was the most sensitive method [100%]. The use of this method in clinical teachings and routine bedside examination should be promoted. Pushing the wall was the most popular method, but was fourth in the sensitivity [60.41%]. Arm maneuvers can bring out winging, when it is not apparent at rest. FSHD patients had a unique combination of winging at rest, persistence of winging throughout the range of motion and elevation of scapulae., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Detecting enlargement of accessible nerves is very helpful in assessing patients with peripheral nerve disorders, as only a few types of neuropathy lead to nerve thickening. The three leading causes are leprosy, hereditary motor and sensory neuropathies (types 1 and 3) and chronic inflammatory demyelinating neuropathies. MRI, neurography and ultrasonography allow assessment of clinically inaccessible portions of deep-seated nerves, plexuses and roots. As a result, isolated proximal segment thickenings, as found in chronic inflammatory sensory polyradiculopathy, can now be better evaluated and managed. Similarly, focal nerve enlargements due to infection, inflammation, infiltration and neoplasm are being identified and treated effectively. We present a practical approach to the diagnosis and management of patients with enlarged peripheral nerves, plexuses and roots, including cranial nerves., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Objectives: To characterize and analyze a subgroup of patients with polymyositis presented with predominant or isolated proximal upper limb and neck weakness., Methods: Patients with polymyositis, presenting with predominant or isolated weakness of upper limbs and the neck, were included. Bohan and Peter and Targoff criteria were used for the diagnosis of polymyositis. The study period was of 14 years (from 1999 to 2013). Detailed clinical, laboratory, histopathological, and/or radiological profiles were evaluated and analyzed in all patients., Results: The mean age of presentation was 37 years (23-58 years), and 86% (12/14) patients were female. All patients developed progressive symmetrical weakness predominantly affecting upper limbs, and 50% (7/14) had weakness only in upper limbs. The referring diagnoses in all 14 patients were other than polymyositis, for example, motor neuron disease, cervical radiculopathy, brachial neuritis, chronic inflammatory demyelinating polyradiculoneuropathy, anti-MuSK myasthenia gravis, and facioscapulohumeral muscular dystrophy. Weakness in the neck and shoulder region was the most common presenting complaints, presenting in 71.4% (10/14) and 64.3% (9/14) of patients, respectively, followed by neck and shoulder pain in 57.14% (8/14) patients. The most severely affected muscles were neck flexors, neck extensors, the trapezius, and the deltoid. Less severe but preferential involvement of wrist and finger extensors was present. Serum creatine kinase was elevated (median CK, 1275 IU/L). Of note, 42.8% (6/14) had associated systemic autoimmune antibodies such as ANA, RA, and anti-Ro antibodies, whereas 36% (5/14) patients had associated interstitial lung disease (ILD). Active irritative myopathy was found in 93% (13/14) patients on needle electromyography studies, and all patients had evidence of inflammatory myopathy (polymyositis) on muscle biopsy. MRI of the cervicobrachial region was performed in the first 6 patients showing T2 hyper intensities (6/6) and contrast enhancement (4/4) of clinically affected muscles. Eighty-six percent (12/14) of patients responded to corticosteroids with an average response initiation time of 7.4 weeks (1-12 weeks). Subsequently used steroid sparing agents were azathioprine (6/14) and methotrexate (6/14). Intravenous immunoglobulin (IVIG) was used in 2 patients and plasmapharesis in 1 patient., Conclusions: Cervicobrachial polymyositis presents with predominant or isolated proximal upper limb and neck weakness. It has marked female preponderance and affects neck flexors and extensors and trapezius and deltoid muscles severely. Wrist and finger extensors are also weakened. In a proportion of patients, it is associated with serological markers of autoimmune disorders and interstitial lung disease. In addition to serum creatine kinase, electromyography, and muscle biopsy, magnetic resonance imaging forms a noninvasive adjunct test in the diagnostic process. Because of the pattern of weakness, cervicobrachial polymyositis tends to be confused with other common neurological conditions having upper girdle weakness, leading to delay in the diagnosis of this potentially treatable condition.

Background: The natural history of myasthenia gravis [MG] is unpredictable: In the first few years the disease course is worst with subsequent gradual disease stabilization. However, some patients tend to have continued disease activity or resurgence of the disease many years into the illness. The factors correlating with disease course need further evaluation., Aims: To study the patterns of remissions, worsening and exacerbations in patients with MG and correlate various factors affecting them., Settings and Design: Retrospective, Institute Review Board (IRB) approved study in tertiary referral neurology center., Materials and Methods: Hundred patients with acquired MG confirming the inclusion criteria were studied. Pharmacological remissions, complete stable remissions, exacerbations, worsening episodes were analyzed with respect to age of onset, disease extent, disease severity at onset and worst of illness, acetyl choline receptor antibody positivity, thymectomy status, period of disease, pharmacotherapy and crisis episodes., Results and Conclusions: In this cohort the percentage of new remission rates per year steadily declined after the first year. Ocular myasthenia had lesser clinical worsening episodes and high chance of complete stable remission. Generalized disease had less chance drug free remission. The risk of episodes of worsening persisted at a steady rate over a period of time, being maximum in the first year. The risk of exacerbations was unpredictable and could occur after prolonged clinical quiescence, often was related to reduction of immunosuppression. The disease course did not differ significantly in the juvenile and adult age-groups. There was a strong case for permanent immunomodulation in MG.

Neoplastic meningitis (NM) poses diagnostic challenges and investigations need to be chosen carefully. We present three cases of NM with distinct learning points. In case 1, MRI was diagnostic of melanosis; in case 2, ventricular CSF showed malignant cells when lumbar CSF repeatedly failed to show them; and in the third, whole body PET scan diagnosed the tumour when other tests were negative. A comparative evaluation of various diagnostic modalities used in suspected NM is provided.

The social and economic impact of neurologic disorders is being increasingly recognized in the developing world. Demographic transition, especially in large Asian populations, has resulted in a significant increase in the elderly population, bringing to the fore neurologic illnesses such as strokes, Alzheimer's disease, and Parkinson's disease. CNS infections such as retroviral diseases, tuberculosis, and malaria still account for high mortality and morbidity. Traumatic brain injury due to traffic accidents takes a high toll of life. Epilepsy continues to be a major health concern with large segments of the developing world's population receiving no treatment. A significant mismatch between the provision of specialized neurologic services and the requirement for them exists, especially in rural areas. Also, health insurance is not available for the majority, with patients having bear the costs themselves, thus limiting the procurement of available healthcare facilities. Neurologic training centers are few and the availability of laboratory facilities and equipment is largely limited to the metropolitan areas. Cultural practices, superstitious beliefs, ignorance, and social stigma may also impede the delivery of neurologic care. Optimizing available human resources, integrating primary, secondary, and tertiary healthcare tiers and making medical treatment more affordable will improve the neurologic care in the developing world., (© 2014 Elsevier B.V. All rights reserved.)

The developing world is still endemic to rabies, tetanus, leprosy, and malaria. Globally more than 55000 people die of rabies each year, about 95% in Asia and Africa. Annually, more than 10 million people, mostly in Asia, receive postexposure vaccination against the disease. World Health Organization estimated tetanus-related deaths at 163000 in 2004 worldwide. Globally, the annual detection of new cases of leprosy continues to decline and the global case detection declined by 3.54% during 2008 compared to 2007. Malaria is endemic in most countries, except the US, Canada, Europe, and Russia. Malaria accounts for 1.5-2.7 million deaths annually. Much of the disease burden related to these four infections is preventable., (© 2014 Elsevier B.V. All rights reserved.)

Background: In the context of inadequacy of neurology workforce in India, it is important to understand factors that post-graduate medical students consider for and against choosing neurology as their career option. Understanding these factors will help in planning strategies to encourage students to pursue a career in neurology. At present, there is a paucity of studies addressing this issue in India., Aims and Objectives: (1) To analyze factors, which post-graduate students consider for and against choosing neurology as a career specialty. (2) To access the level and quality of neurology exposure in the current MBBS and MD curricula., Materials and Methods: Statewide questionnaire based study was conducted in the state of Maharashtra for students eligible to take DM neurology entrance examination (MD Medicine and MD Pediatrics)., Results: In this survey, 243 students were enrolled. Factors bringing students to neurology were - intellectual challenge and logical reasoning (72%), inspired by role model teachers (63%), better quality-of-life (51%) and scope for independent practice without expensive infrastructure (48%). Factors preventing students from taking neurology were - perception that most neurological diseases are degenerative (78%), neurology is mainly an academic specialty (40%), neurophobia (43%) and lack of procedures (57%). Inadequate exposure and resultant lack of self-confidence were common (31%, 70-80%). 84% of the students felt the need for a short term certification course in neurology after MD., Conclusions: To attract more students to neurology, "role model" teachers of neurology could interact and teach students extensively. Neurologists' efforts to shed their diagnostician's image and to shift their focus to therapeutics will help change the image of neurology. Out-patient neurology clinics should be incorporated early in the student's career. Procedures attract students; hence, they should be made conversant with procedures and interventions. Increasing the level of neurological exposure in our current MBBS and MD curriculum is necessary. A case could be made for consideration of short certification course in neurology for physicians.

Introduction: Clinical heterogeneity of limb-girdle muscular dystrophies (LGMDs, 24 known subtypes), which includes overlapping phenotypes and varying ages of onset and morbidity, adds complexity to clinical and molecular diagnoses., Methods: To diagnose LGMD subtype, protein analysis, using immunohistochemistry (IHC) and immunoblotting, was followed by gene sequencing through a panel approach (simultaneous sequencing of known LGMD genes) in 9 patients from unrelated families of the Indian Agarwal community. Haplotype studies were performed by targeted SNP genotyping to establish mutation segregation., Results: We identified 2 founder mutations in CAPN3, a missense (c.2338G>C; p.D780H) and a splice-site (c.2099-1G>T) mutation, on 2 different haplotype backgrounds. The patients were either heterozygous for both or homozygous for either of these mutations., Conclusions: Founder mutations have immediate clinical application, at least in selected population groups. Clinically available gene panels may provide a definitive molecular diagnosis for heterogeneous disorders such as LGMD., (Copyright © 2012 Wiley Periodicals, Inc.)

Context: Syncope is a common cause of transient loss of consciousness. In the analysis of patients having syncope, body position has not been systematically studied and correlated with triggers, prodromal symptoms and circumstances. This correlation is important in differentiating syncope from its mimics., Aims: To study syncope with respect to body positions, triggers, prodromal symptoms and circumstances., Settings and Design: Prospective study set in Neurology Department of Tertiary Care Center., Materials and Methods: Patients fulfilling guidelines set by The Task Force for the Diagnosis and Management of Syncope of the European Society of Cardiology (ESC) were recruited. Detailed clinical history, examination and investigations (ECG, 2D-ECHO, Head Up Tilt Test, Holter monitor, EEG, MRI Brain) were carried out., Results: Out of the 111 recruited patients, 67 developed syncope in standing, 16 in sitting, 23 in both standing and sitting, 1 in both sitting and supine and 4 in all three positions. Prodromal symptoms were present in 81% while triggers in 42% and circumstances in 41% of patients. Black out, sweating, dizziness and headache were most common prodromal symptoms. Intense pain, smell and fear were most common triggers while prolonged standing, hot crowded room and fasting were most common circumstances associated with syncope., Conclusions: Against common belief, syncope can occur in sitting as well as in supine position. Emotional triggers were commoner in patients with syncope in supine and sitting positions while prodromal symptoms and circumstances were similar for all positions. Syncope should be considered in body positions other than standing.

Brachial plexus injury can occur as a result of trauma, inflammation or malignancies, and associated complications. The current topic is concerned with various forms of brachial plexopathy, its clinical features, pathophysiology, imaging findings, and management. Idiopathic brachial neuritis (IBN), often preceded with antecedent events such as infection, commonly present with abruptonset painful asymmetric upper limb weakness with associated wasting around the shoulder girdle and arm muscles. Idiopathic hypertrophic brachial neuritis, a rare condition, is usually painless to begin with, unlike IBN. Hereditary neuralgic amyotrophy is an autosomal-dominant disorder characterized by repeated episodes of paralysis and sensory disturbances in an affected limb, which is preceded by severe pain. While the frequency of the episodes tends to decrease with age, affected individuals suffer from residual deficits. Neurogenic thoracic outlet syndrome affects the lower trunk of the brachial plexus. It is diagnosed on the basis of electrophysiology and is amenable to surgical intervention. Cancer-related brachial plexopathy may occur secondary to metastatic infiltration or radiation therapy. Traumatic brachial plexus injury is commonly encountered in neurology, orthopedic, and plastic surgery set-ups. Trauma may be a direct blow or traction or stretch injury. The prognosis depends on the extent and site of injury as well as the surgical expertise.

Background: The technique of multiplex ligation-dependent probe amplification (MLPA) assay is an advanced technique to identify deletions and duplications of all the 79 exons of DMD gene in patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and female carriers., Aim: To use MLPA assay to detect deletions which remained unidentified on multiplex polymerase chain reaction (mPCR) analysis, scanning 32 exons of the "hot spot" region. Besides knowing the deletions and/or duplications, MLPA was also used to determine the carrier status of the females at risk., Materials and Methods: Twenty male patients showing no deletions on mPCR and 10 suspected carrier females were studied by MLPA assay using P-034 and P-035, probe sets (MRC Holland) covering all the 79 exons followed by capillary electrophoresis on sequencing system., Results: On MLPA analysis, nine patients showed deletions of exons other than 32 exons screened by mPCR represented by absence of peak. Value of peak areas were double or more in four patients indicating duplications of exons. Carrier status was confirmed in 50% of females at risk., Conclusion: Combining the two techniques, mPCR followed by MLPA assay, has enabled more accurate detection and extent of deletions and duplications which otherwise would have remained unidentified, thereby increasing the mutation pick up rate. These findings have also allowed prediction of expected phenotype. Determining carrier status has a considerable significance in estimating the risk in future pregnancies and prenatal testing options to limit the birth of affected individuals.

The spectrum of chronic dysimmune neuropathies has widened well beyond chronic demyelinating polyradiculoneuropathy (CIDP). Pure motor (multifocal motor neuropathy), sensorimotor with asymmetrical involvement (multifocal acquired demylinating sensory and motor neuropathy), exclusively distal sensory (distal acquired demyelinating sensory neuropathy) and very proximal sensory (chronic immune sensory polyradiculopathy) constitute the variants of CIDP. Correct diagnosis of these entities is of importance in terms of initiation of appropriate therapy as well as prognostication of these patients. The rates of detection of immune-mediated neuropathies with monoclonal cell proliferation (monoclonal gammopathy of unknown significance, multiple myeloma, etc.) have been facilitated as better diagnostic tools such as serum immunofixation electrophoresis are being used more often. Immune neuropathies associated with malignancies and systemic vasculitic disorders are being defined further and treated early with better understanding of the disease processes. As this field of dysimmune neuropathies will evolve in the future, some of the curious aspects of the clinical presentations and response patterns to different immunosuppressants or immunomodulators will be further elucidated. This review also discusses representative case studies.

India is silently witnessing a stroke epidemic. There is an urgent need to develop a national program towards "Fighting Stroke". This program should be specific to our national needs. In order to recommend on who should lead an Indian fight-stroke program, we examined the published opinions of stroke clinicians and the official documents on stroke care training abroad. We identified the resources that already exist in India and can be utilized to develop a national fight-stroke program. Through a review of published literature, we noted different opinions that exist on who would best manage stroke. We found that because stroke is a cardiovascular disorder of the central nervous system, its management requires a multi-disciplinary approach involving clinicians with background not limited to neurology. India has very few neurologists trained in stroke medicine and they cannot care for all stroke patients of the country. We propose a mechanism that would quickly put in place a stroke care model relevant in Indian context. We recommend for tapping the clinical expertise available from existing pool of non-neurologist physicians who can be trained and certified in stroke medicine (Strokology). We have discussed an approach towards developing a national network for training and research in Strokology hoping that our recommendations would initiate discussion amongst stroke academicians and motivate the national policy makers to quickly develop an "Indian Fight Stroke Program."

Pyridostigmine relieved episodic weakness in a family with paramyotonia congenita resulting from the R1448C mutation in the sodium channel gene. The transmission was autosomal dominant and the patients had paradoxical myotonia and exercise-induced weakness. On electrophysiological studies there were myotonic potentials, and there was progressive reduction of compound muscle action potential (CMAP) amplitudes after short exercise associated with clinical weakness. Pyridostigmine in doses of 60 mg three times daily abolished the drop in the postexercise CMAP amplitude and reduced the amplitude decrement to slow rate repetitive stimulation, but there continued to be a drop in amplitude on exposure to cold. The decline of the CMAP amplitude on exposure to cold was controlled by treatment with phenytoin. The clinical and electrophysiological features are discussed in relation to therapy with pyridostigmine and phenytoin.

Background: Leprosy presents commonly with mononeuritis multiplex, affecting mainly the exteroceptive sensations. Neuropathy with a significant afferent large fiber element is considered to be an uncommon manifestation of leprous neuropathy., Aims: To evaluate the clinical and neurophysiologic aspects of a subset of patients with leprous neuropathy having clinical proprioceptive loss., Settings and Design: Prospective study of patients with a diagnosis of peripheral neuropathy secondary to leprosy having proprioceptive loss., Materials and Methods: Consecutive patients seen during a two-year period (2004 and 2005) diagnosed to have leprous neuropathy with proprioceptive abnormalities on clinical examination were included. The diagnosis of leprosy was achieved by clinical features along with positive skin biopsy, split skin smears or nerve biopsy. Their clinical and electrophysiological characteristics were studied., Statistical Methods: The results were analyzed using Chi-Square test. Values less than 0.05 were considered to be statistically significant ., Results and Conclusions: We observed predominance (68.42%) of multibacillary of leprosy. Symmetrical neuropathies outnumbered mononeuritis multiplex (12:7). The pan sensory neuropathy had a mean duration of 24.32 months, but sometimes appeared early in the course of the disease. Areflexia and electrophysiological evidence of proximal affection was common, reflecting proximal spread of neuropathic process. Such patients have a higher incidence of developing deformities and ulcerations and they represent a vulnerable subset of patients with leprosy.

The recent years have seen remarkable progress in the field of limb girdle muscular dystrophies (LGMDs) with the advances in immunocytochemistry and genetics. Based on this, many subgroups have emerged. Protein products and genes are getting defined and newer mechanisms of disease are being recognized. Limb girdle muscular dystrophies are common in India. The clinical material is plentiful, and from various centers in the country, phenotypes have been studied. With the help of immunocytochemistry, sarcoglycanopathies and dysferlinopathies have been studied. Genetic information on these subgroups is now beginning to emerge. The laboratory facilities are limited and available in select centers in large institutes. Establishment of genetic laboratories and sophisticated muscle pathology techniques will further elucidate the LGMDs in India.

Background: Idiopathic inflammatory myopathies (IIMs) form important treatable myopathies, hence it is important to recognize and categorize them. In some cases, the differential diagnosis between IIM and muscular dystrophies can be difficult., Aim: To study the clinical and laboratory features of patients with IIMs and compare and contrast this group with limb girdle muscular dystrophies (LGMDs)., Setting and Design: A prospective study for the period of five years [1999-2004] was undertaken at a tertiary neuromuscular center., Materials and Methods: Bohan and Peter criteria were used for the diagnosis of IIM and Bushby criteria were used for the diagnosis of LGMD. Patients underwent history, clinical examination, hematological tests, electrophysiological studies and muscle biopsy. The biopsies were studied for histology and immunocytochemistry. A clinical scoring system was evolved to differentiate IIM from LGMD and was validated in a blinded manner. Receiver operator curves were used as the statistical method to analyze the sensitivity and specificity., Results and Conclusions: In the IIM group, dermatomyositis was most common, followed by polymyositis, occurring in young females. Overlap group was less common. In patients with polymyositis, onset in upper girdle was associated with adverse outcome. The scoring system helped to differentiate IIM from LGMD, mainly using clinical pointers. This was particularly valuable in chronic cases.

The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy (D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD) patients to have out-framed deletions and Becker's muscular dystrophy (BMD) patients to have in-frame deletions of dystrophin gene holds well in the vast majority of cases. Mutation detection is obviously critical for diagnosis but it may also be important for future therapeutic purposes. These factors underscore the need for earlier referral, genetic counseling and provision of support and rehabilitation services which are the main priorities for psychosocial assessment and intervention at medical and social levels.

Long-term observations over a period of 22 years in an Indian family with primary dysferlinopathy are recorded, defining phenotypic variability. In the propositus, the dystrophy began distally in the tibialis anterior muscles, before involving the gastrocnemius. Transient painful calf hypertrophy, followed by calf wasting was observed. The proximal lower and upper limbs weakened after three to four years. The younger sibling presented with the proximo-distal phenotype. Both patients showed very high creatine kinase values early into the illness. Disease progression was slow. The younger sibling lost ambulation 14 years after onset, while the elder one remains ambulatory 22 years into the illness. Muscle biopsy showed dystrophic features and absence of dysferlin. Monocyte western blotting confirmed absence of dysferlin. Genetic analysis detected a heterozygous mutation in Exon 54 [c.6124C>T] in the DYSF gene. This is the first family with a diagnosis of dysferlinopathy supported by genetic data, reported from India.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord resulting in progressive muscle weakness and atrophy., Aims: The molecular analysis of two marker genes for spinal muscular atrophy (SMA) i.e, the survival motor neuron gene (SMN) and the neuronal apoptosis inhibitory protein gene (NAIP) was conducted in 39 Indian patients with clinical symptoms of SMA. Out of these, 28 showed homozygous deletions and the phenotypic features of these SMA patients were compared with the corresponding genotypes., Settings: A tertiary care teaching Hospital., Design: This is a prospective hospital based study., Materials and Methods: Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 and exon 8 of SMN1 gene, as well as multiplex PCR for exon 5 and 13 of NAIP gene., Results: Exons 7 and 8 of SMN and NAIP (exon 5) were homozygously deleted in 73% of SMA I and 27% of SMA II patients. SMN exon 7 and 8 deletions without NAIP deletions were seen in 27% of type I SMA and 46% of SMA type II patients. Two patients of type III SMA showed single deletion of SMN exon 7 along with 27% of SMA type II patients., Conclusion: With the advent of molecular biology techniques, SMN gene deletion studies have become the first line of investigation for confirmation of a clinical diagnosis of SMA. The findings of homozygous deletions of exons 7 and/or 8 of SMN1 gene confirms the diagnosis of SMA, even in patients with atypical clinical features. Deletions of NAIP gene were mainly seen in severely affected patients, hence is useful for predicting the prognosis.

Severe childhood autosomal recessive muscular dystrophy (SCARMD) is characterized by a severe Duchene muscular dystrophy like phenotype. Most such cases represent alpha or gamma sarcoglycanopathies. Mental subnormality is very uncommon and other central nervous system deficits have not been documented in patients with SCARMD. We report a brother and sister with the SCARMD phenotype, who additionally had static mental subnormality and choreiform movements. Work-up for sarcolgycan genes, dystrophin gene and known causes of mental retardation and chorea was normal.

Legionnaires' disease is an atypical pneumonia with protean multisystem manifestations. Neurological involvement in legionellosis is rare and tends to be among the presenting manifestations. We report a previously healthy young lady who developed focal sensory deficits and cerebellar dysfunction after clinical recovery from Legionella pneumonia. The care is unusual for the delayed appearance of striking focal sensory abnormalities and cerebellar dysfunction.

Myasthenia gravis is the prototype neuromuscular disease with immunological pathogenesis. The recognition and interpretation of the symptoms should be stressed as the diagnosis is initially achieved on clinical ground. Tests in the areas of immunology, electrophysiology and imaging further help the diagnosis, management and prognosis of the condition. The recent knowledge of immunology seems to point to variations in the immune abnormalities, but it remains to be seen whether the differences have clinical relevance. With the availability of intensive care units, the management of acute events in the myasthenic patients has improved considerably and the morbidity is reduced. Long term remissions are achievable in majority of patients, with supervised use of immunosuppression. In the modern times, the grave connotations of the name myasthenia gravis may be only rarely justified.

Aim: The aim of the study was to analyze the clinical and laboratory characteristics of Indian patients having dysferlinopathy., Methods and Material: Patients with limb girdle muscular dystrophy (LGMD) were prospectively studied. History, examination, and laboratory evaluation, including creatine kinase, electrophysiology, and muscle biopsy with immunocytochemistry, was carried out., Results and Conclusions: Fourteen patients (14.58% of patients with LGMD) had dysferlin deficiency. The mean age at onset was 19.9 years. Nine patients had distal presentation and in the remaining 5 patients, it was proximal. Asymmetry of muscle weakness was seen in 6 patients. Three patients experienced initial calf pains with transient hypertrophy. Gastrocnemius and tibialis anterior muscles were almost similarly affected. The brunt of proximal weakness was on iliopsoas, hip adductors, hamstrings, and quadriceps muscles. Upper limbs were mildly affected. Biceps lump was seen in 4 patients. The phenotype was mild and ambulation was maintained in all patients, many years into the illness.

We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients with cerebellar atrophy while the spectroscopy was abnormal only in the eldest who was the most severely affected. The cases are reported for their rarity as well as for an opportunity of observing this uncommon disease in its stages of evolution in three siblings.

Two brothers with immune-mediated myasthenia gravis are presented for the rarity. The clinical presentation was dissimilar. Both had acetylcholine receptor antibody positivity and one had thymoma. Both responded to immunomodulation and thymectomy. Relevant literature is reviewed.