AUTOSOMAL-DOMINANT MYOPATHY WITH CONGENITAL JOINT CONTRACTURES, OPHTHALMOPLEGIA, AND RIMMED VACUOLES

We describe a new myopathy in a large family with 19 affected cases. I nheritance was autosomal dominant. Characteristic clinical features we re congenital joint contractures, which normalized during early childh ood, external ophthalmoplegia, and proxima muscle weakness. Muscle atr ophy was most prominent in the pectoralis and quadriceps muscles. The clinical course was nonprogressive in childhood, but most adult cases experienced deterioration of muscle function, starting from 30 to 50 y ears of age. The major histopathological change of skeletal muscle in childhood was focal disorganization of myofilaments. In adults with pr ogressive muscle weakness, the muscle biopsies showed dystrophic chang es and rimmed vacuoles with cytoplasmic and intranuclear inclusions of 15- to 21-nm filaments. These findings suggests that this new disease should be classified as a variant of hereditary inclusion body myopat hy.