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Hospital Based Study on Laboratory Investigations on Heriditary Muscle Disorders

Bibliographic Data

ID15795990
AuthorsN Balamurugan (0000-0002-3286-7034, Government Mohan Kumaramangalam Medical College, corresponding author), D Muthukumaran (Government Mohan Kumaramangalam Medical College, corresponding author), S Sangeetha (Vinayaka Missions University, corresponding author), S Balasubramanian (0000-0002-6277-2837, Madras Medical College, corresponding author)
Year2022
Pages10546-10555
Publication date2022-07-18
Open AccessYes
TypeARTICLE
VenueInternational Journal of Health Sciences (JOURNAL)
Journal identifiersISSN: 2550-696X • E-ISSN: 2550-6978
PublisherUniversidad Tecnica de Manabi (PUBLISHER • EC)
DOI10.53730/ijhs.v6ns5.10775
OpenAlexW4294010344
LanguageEN
References cited1

Background: Myopathies are a group of neuro muscular diseases that cause muscle weakness, cramps, and spasms due to a primary defect of the muscle fiber. We undertook this study of hereditary muscle disorders to identify the clinical patterns and laboratory findings in these conditions and study the correlation between them, which will help in recognizing them early for adequate management with rehabilitation measures and for prognostication. Aim: To assess the correlation between the clinical and investigational profile in Hereditary muscle disorders. Methods: A cross sectional study was conducted among 44 patients with clinical features suggestive of hereditary muscle disorders who sort health care at Institute of neurology, Madras Medical college, Chennai using various investigation techniques like Serum CK measurement, Nerve conduction Study, Electromyography, Muscle biopsy. Results: CK elevation was found in all patients in our study, but the degree of elevation differs among various hereditary muscle disorders. It was maximal (>25 times normal) in patients with DMD (50%), BMD (40%) and in LGMD (4%). High degree of correlation between clinical diagnosis of hereditary muscle disorders and myopathic EMG was found. Myopathic pattern was observed in all patients of Muscular dystrophy, congenital myopathy and distal myopathy

Biopsy · Electromyography · Muscle biopsy · Muscle disorder · Muscular dystrophy · Myopathy · Physical medicine and rehabilitation · Physical therapy · Weakness · Genetic Neurodegenerative Diseases · Medicine · Muscle Physiology and Disorders · Nuclear Structure and Function · Internal Medicine · Neurology · Surgery

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