A5082272311- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Inflammatory Myopathies and Dermatomyositis
- Genetic Neurodegenerative Diseases
- Myasthenia Gravis and Thymoma
- Cardiomyopathy and Myosin Studies
- Nuclear Structure and Function
- Amyotrophic Lateral Sclerosis Research
- Signaling Pathways in Disease
- Parkinson's Disease and Spinal Disorders
- Neurological diseases and metabolism
- RNA Research and Splicing
- Peripheral Nerve Disorders
- Ion Channels and Receptors
- Genetics, Aging, and Longevity in Model Organisms
- Metabolism and Genetic Disorders
- Peripheral Neuropathies and Disorders
- Autoimmune Neurological Disorders and Treatments
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- Parkinson's Disease Mechanisms and Treatments
- Cervical and Thoracic Myelopathy
- Hereditary Neurological Disorders
- GDF15 and Related Biomarkers
National Institute of Mental Health and Neurosciences
2018-2025
St.John's Medical College Hospital
2023-2024
St. John's National Academy of Health Sciences
2024
Manipal Academy of Higher Education
2021
The University of Sydney
2021
Institute of Bioinformatics
2021
Children's Hospital at Westmead
2021
Introduction: Titinopathies are heterogenous group of disorders affecting the skeletal and cardiac muscles variably caused by Titin ( TTN) gene mutations located in Chromosome 2. The manifestations extend from congenital to adult-onset myopathies. Here we describe phenotype-genotype heterogeneity patients with myopathy/muscular dystrophy associated TTN variants an Indian cohort. Methods: A retrospective descriptive study 12 diagnosed primary muscle disease evaluated between 2016 2023...
Abstract Background and Objectives: Magnetic resonance imaging (MRI) in dysferlinopathy has consistently demonstrated a particular pattern of affliction. We aimed to study muscle MRI characteristics lower limbs limb girdle muscular dystrophy (LGMD)-R2 phenotypes correlate them with the gait pattern. Methods: Forty genetically and/or biopsy-proven cases underwent limbs. The extent fatty infiltration edema were recorded. Spearman’s correlation analysis was used find between involvement...
The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) FKRP related congenital dystrophies.To identify the distinct genotype phenotype pattern in Indian patients with gene mutations.We retrospectively reviewed case files having a genetically confirmed mutation. All had undergone genetic testing using next-generation sequencing.Our included five males four females presenting between 1.5...
Background: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare disorder; there limited experience regarding its clinical course and therapeutic response.Aims Objectives: To describe the profile, investigations, outcome in pediatric OMAS.Patients Methods: Fourteen children (age: 27.1 ± 7 months; male: female = 1:2.3) suffering from OMAS seen over period of 10 years (2006–2015) were included study. Their clinicodemographic at follow-up, relapses reviewed.Results: Ten reported antecedent...
Objectives: This study aimed to determine the risk factors and stroke subtypes for young ischemic patients their outcomes at time of discharge. Methods: is a retrospective cross-sectional (n = 264) between age groups 18 45. The population was divided into two broad groups: 35 years 36 45 years; compared based on demographics, factors, Trial Org 10172 in Acute Stroke Treatment (TOAST) classification, outcomes. were National Institutes Health Scale (NIHSS) Modified Rankin (MRS) systems...
Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially treatable commonly available medications such as acetylcholinesterase inhibitors β2 adrenergic receptor agonists. In this study, we identified genetically characterized largest cohort CMS patients from India to date. Genetic testing clinically suspected evaluated in South Indian hospital during period 2014-19 was carried out standard...
Background: Electrocardiography (ECG) remains an excellent screening tool for cardiac assessment in Duchenne muscular dystrophy (DMD), but accurate interpretation requires comparison with age-matched healthy controls. Objective: We examined various ECG parameters children DMD, Methods: Standard 12-lead tracings of serial patients were screened quality and selected. Controls healthy, school-going children. Both quantitative qualitative analyzed. Results: After screening, ECGs from 252 DMD...
Introduction: GNE myopathy is a rare slowly progressive adult-onset distal with autosomal recessive inheritance. It has distinctive features of quadriceps sparing preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10–20 years after onset. This study analyzes the phenotype-genotype characteristics and disease progression in large cohort GNEM from India. Materials methods: Retrospective observational on quaternary neurology referral hospital southern...
We sought to determine the utility of PET-MRI in diagnosing Idiopathic Inflammatory Myositis (IIM), and look for association between FDG uptake clinical, pathological laboratory parameters.A retrospective, observational study was conducted on IIM patients having positive serum autoantibodies who underwent (3-Tesla SIEMENS Biograph MR scanner) 2017 2021. Thirty detect systemic metastasis without muscle involvement formed control group.In cohort, female: male sex ratio 1.73, mean age at...
Cross-sectional area (CSA) is the most important parameter to study peripheral nerves by high-resolution ultrasonography. The aim was acquire normative data of CSA main upper and lower limb in Indian population.CSA determined 100 healthy volunteers at 11 predetermined sites: median ulnar wrist, mid-forearm, elbow; radial (spiral groove); tibial (popliteal fossa, medial malleolus); common peroneal (CPN, fibular head) sural (lateral malleolus).The mean age participants 40.7 ± 13.0 years...
Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in ECEL1. We describe two consanguineous families (three patients) with novel ECEL1 gene detected next-generation sequencing (NGS). A 12-year-old boy (patient 1) presented birth asphyxia, motor developmental delay, multiple joint contractures, pes planus, kyphoscoliosis, undescended testis, hypophonic speech nasal twang, asymmetric ptosis, facial weakness, absent abductor pollicis brevis,...
Ultrasonography (USG) of the diaphragm is a promising alternative to pulmonary function tests (PFT) for assessing respiratory in amyotrophic lateral sclerosis/motor neuron disease (ALS/MND).We studied 33 patients fulfilling Awaji criteria (definite = 14; probable 12; possible 7) and age gender-matched controls. Diaphragm thickness was measured using USG at end expiration (DTex) inspiration (DTin). The ratio (TR) calculated as DTin/DTex. mean onset duration were 49.73 ± 12.7 years 13.57 9.7...
Calpainopathy is caused by mutations in the CAPN3 . There only one clinical and genetic study of from India none South India. A total 72 (male[M]:female [F] = 34:38) genetically confirmed probands independent families are included this study. Consanguinity was present 54.2%. The mean age onset duration symptoms 13.5 ± 6.4 6.3 4.7 years, respectively. Positive family history occurred 23.3%. predominant initial were proximal lower limb weakness (52.1%) toe walking (20.5%). At presentation,...
Encephalopathy and Myopathy in children of varying ages can be due to variety causes including Mitochondrial diseases, metabolic diseases like renal tubular acidosis, storage as well fatty acid oxidation (FAO) disorders. FAO related disorders have variable clinical presentation manifest different ages. They may present with hypoglycemia, effort intolerance, multi organ involvement or without ketonuria. High degree suspicion appropriate investigations are mandatory for diagnosis. Here we...
Introduction: The impact of coronavirus disease 2019 (COVID-19) infection on patients with multiple sclerosis (MS) undergoing various immunomodulating therapies can vary. Individuals B-cell therapy, such as rituximab, may be more susceptible to compared those treated natalizumab. Objective: objective this study was determine the incidence and severity COVID-19 in receiving natalizumab, healthy controls. Methods: This retrospective multicentric included data derived from a centralized MS...
Abstract Introduction ORAI-1 is a plasma membrane calcium release-activated channel that plays crucial role in the excitation–contraction of skeletal muscles. Loss-of-function mutations cause severe combined immunodeficiency, nonprogressive muscle hypotonia, and anhidrotic ectodermal dysplasia. Autosomal dominant gain-of-function mutation causes Stormorken's syndrome, which includes tubular aggregate myopathy along with bleeding diathesis. Methods This description genetically confirmed case...
Abstract Background and Objectives: Cardiovascular magnetic resonance imaging (CMRI) is the noninvasive technique of choice for early detection cardiac involvement in Duchenne Becker muscular dystrophy (DMD BMD, respectively), but seldom used routine clinical practice Indian context. We sought to determine prevalence CMRI abnormalities patients with DMD BMD compare parameters phenotypic genotypic characteristics. Methods: A prospective, observational study was conducted on genetically...