Muscular Dystrophies

Muscular dystrophies comprise a heterogeneous group of muscle disorders with various symptoms, severity, and heritability, but are characterized by muscle weakness and variation in muscle fiber size and myofiber necrosis on histopathological examination. This group of disorders is classified based on the phenotype, inheritance, genetic defect, and protein involved. Distinguishing features like the pattern of muscle involvement and certain associated clinical features aid in the clinical diagnosis. However, for final diagnosis, the clinical findings need to be corroborated with electroneuromyographic findings, muscle biopsy findings, genetic testing, and family history. Most of the congenital and childhood-onset forms show autosomal recessive inheritance, whereas the majority of adolescent and adult-onset forms are slow progressive and show autosomal dominant inheritance. In dystrophinopathies and severe forms of limb-girdle muscular dystrophy, cardiac and/or respiratory involvements are often the leading cause of death. In this chapter, we focus on the classification, clinical manifestations, etiology and pathology, medical, surgical, and physiotherapy management of adolescent and adult forms of muscular dystrophy.