MUSCULAR DYSTROPHY - HOPEFUL FUTURE
Muscular dystrophy refers to a group of genetically determined, progressive disorders with distinctive genotype and phenotype. Muscular dystrophy weakens musculoskeletal system and affects locomotion. Duchene muscular dystrophy (DMD) is the most common muscular dystrophy with X-linked recessive inheritance and characterized by severe muscle wasting resulting in muscle degeneration with early confinement to wheel chair and premature death (around 20 years). The disease is caused by mutation in DMD gene present on short arm of X chromosome at Xp21which codes for cytoskeleton protein “dystrophinâ€. DMD is present since birth, but manifests between 3-5 years of age. Progressive weakness of proximal limb muscles (especially leg) and pelvis is observed. Gower’s sign is positive. Becker’s muscular dystrophy (BMD) is clinically same as DMD but is less severe. The dystrophin produced is in insufficient amount or altered in size which causes instability of sarcolemma. Limb girdle muscular dystrophy may have autosomal dominant or autosomal recessive inheritance and known as sacroglycanopathies. Emery-Dreifuss muscular dystrophy is associated with mutations in genes at Xp28. Congenital muscular dystrophy is associated with hypotonia and weakness of proximal muscles at birth or in fe w months after birth. Facioscapulohumeral dystrophy witnesses near puberty. In myotonic dystrophy smooth muscles, skeletal muscles, neurological, endocrinal and ocular involvement is observed. Physiotherapy, cycling and walking to be encouraged with avoida nce of immobilization. Orthopedic braces are used to improve mobility. Though muscular dystrophy is rare but morbid condition, use of corticosteroids and other modalities like genetic interventions and prenatal diagnosis showed some hope. Despite giving al l modalities of treatment patients of dystrophy ultimately meet their fate.