X-Linked Pseudohypertrophic Muscular Dystrophy with a Late Onset and Slow Progression

Abstract

PROGRESSIVE muscular dystrophy was recognized over a century ago, and Gowers noted its familial occurrence soon afterward. The disease, which is similar in affected members of a family, may vary in mode of inheritance and clinical characteristics from kindred to kindred. The most common form, described by Duchenne in 1868, is transmitted as an X-linked recessive characteristic. Typically, these affected males show weakness in their pelvifemoral muscles before the age of six, experience rapid progression of their muscle weakness, acquire pseudohypertrophy of the calves, are chair bound by twelve years and are dead by twenty years of age. In the . . .