A hospital based study on laboratory investigations on heriditary muscle disorders
Keywords:
Myopathy, Serum CPK elevation, Electromyography, Clinical DiagnosisAbstract
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.
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A Y Manzur and F Muntoni ., Diagnosis and new treatments in muscular dystrophies J NeurolNeurosurg Psychiatry 2009 80: 706-714.
Black JT, Bhatt GP, Dejesus PV, Schotland DI., Rowland LP: Diagnostic accuracy of clinical data, quantitative electrornyography and histochemistry in neuromuscular disease.JNeurolSca21:59-70, 1974.
Deepti AN, Gayathri N, Veerendra Kumar M, Shankar Susarla K. Nemaline myopathy: A report of four cases. Ann Ind AcadNeurol2007;10:175-7.
Fritz Buchthal, Md, And zoflaKamieniecka, Md,. The Diagnostic Yield Of Quantified Electromyography And Quantified Muscle Biopsy In Neuromuscular Disorders, Muscle & Nerve 5:265-280 1982.
Mastaglia FL, NG laing et al. Journal of neurology, neuro surgery, psychiatry, Investigation of muscle diseases, March 1996;60:26-274.
Panegyres PK, Mastaglia FL, Kakulas BA.Limb girdle syndromes. Clinical, morphological and electrophysiological studies. J Neurol Sci. 1990 Feb;95 (2):201-18.
Pérez, A. V., Gámez, M. R., Viteri, C. G. V., & Fernández, M. C. (2019). Renewable sources and natural disasters: A look from legal order in professional training. International Journal of Social Sciences and Humanities, 3(2), 1–9. https://doi.org/10.29332/ijssh.v3n2.283
Schwartz RA, Archibald KC, Hagstrom JWC: Correlative findings by electromyography and muscle biopsy in neuromuscular disorders. Arch PhyMed Rehahil47:653-658, 1966.
Shukla G, Bhatia M, Sarkar C, Padma MV, Tripathi M, Jain S. Muscular dystrophies and related skeletal muscle disorders in an Indian population--a prospective correlative study. J Clin Neurosci. 2004 Sep; 11(7):723-7.
Suryasa, I. W., Rodríguez-Gámez, M., & Koldoris, T. (2021). Get vaccinated when it is your turn and follow the local guidelines. International Journal of Health Sciences, 5(3), x-xv. https://doi.org/10.53730/ijhs.v5n3.2938
Wong ET, Cobb C, Umehara MK et al. Heterogeneity of serum creatine kinase activity among racial and gender groups of the population. Am J Clin Pathol1983;79:582–586.
Yanti, R., Sinrang, A. W., & Aminuddin, A. (2021). Levels of c-reactive protein (CRP) in stunting and non stunting tolls age 36-60 months. International Journal of Health & Medical Sciences, 4(1), 150-154. https://doi.org/10.31295/ijhms.v4n1.1667
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