Profiles of neuromuscular diseases. Design of the protocol.

Abstract

The purpose of this 10-yr investigation was to develop comprehensive impairment and disability profiles of the clinical characteristics of seven neuromuscular diseases: spinal muscular atrophy, hereditary motor sensory neuropathy, Duchenne muscular dystrophy, Becker's muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle syndrome, and myotonic dystrophy. Based on the World Health Organization's classification of disablement, as applied to neuromuscular diseases, impairment was evaluated by measurements of strength, range of motion, spine deformity, cardiac and pulmonary function, and intellectual capacity. Disability was evaluated by measures of mobility and upper extremity function, cardiopulmonary adaptations, cardiac and pulmonary complications, and psychosocial adjustment.