hospital based study on laboratory investigations on heriditary muscle disorders

Autor: N. Balamurugan, D. Muthukumaran, S. Sangeetha, S. Balasubramanian
Rok vydání: 2022
Předmět:
Zdroj: International journal of health sciences. :10546-10555
ISSN: 2550-696X
2550-6978
DOI: 10.53730/ijhs.v6ns5.10775
Popis: 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.
Databáze: OpenAIRE