Genetic evaluation of inherited muscle diseases

Inherited muscle diseases are common and can present to the neurologist as anything from an incidentally found high creatine kinase level with muscle soreness in an adult to severe weakness at birth. Although a vast number of gene mutations can cause muscle degeneration, a solid understanding of the clinical presentation and gene diagnostic methods of the three most common forms of inherited muscle disease (Duchenne, myotonic, and facioscapulohumeral muscular dystrophy) will allow for the accurate diagnosis in most cases. Additionally, a general understanding of the cellular pathways involved in maintaining proper muscle fiber integrity helps provide a road map for evaluating less common disorders that are more of a diagnostic challenge, including limb-girdle muscular dystrophy, distal myopathy, congenital myopathy, and congenital muscular dystrophy.