DOI: 10.36347/sjams.2016.v04i10.054

Pages: 3826-3832

The muscular dystrophies are progressive, hereditary, degenerative, diseases of skeletal muscle. One of the problems in the diagnosis of the muscular dystrophies and in understanding their nature is the close resemblance between those and the spinal muscular atrophies. This study was conducted to study the inheritance patterns and clinical presentation of muscular dystrophies in western rural India. Forty patients with a diagnosis of Muscular Dystrophy were selected for the study. The types of Muscular Dystrophies studied were Duchenne Muscular Dystrophy (DMD), Becker’s Muscular Dystrophy (BMD), Limb Girdle Muscular Dystrophy (LGMD), Facio-Scapulo-Humeral Dystrophy (FSH) and Myotonic Dystrophy (MD).A careful history of muscle disease in a vertical transmission up to 2 to 3 generations and disease in other male siblings of the patient were carefully elicited. The subjects were examined thoroughly and investigated in detail including Manual muscle testing, serum muscle enzymes, electromyography and 2D-Echocardiography and muscle biopsy. The study revealed the Muscle dystrophy patients in India seem to present much earlier with deformities and fixed contractures and are incapacitated much earlier in the disease process with a mean age of inability to walk at seven years of illness. The sample population is small when divided into its different subgroups. A longer study is necessary to further evaluate this observation for the significance. CPK levels cannot be used as an index of the severity of the disease since they remain elevated till very late in the disease.