RIMMED, VACUOLAR DISTAL MYOPATHY IN 2 TAIWANESE SIBLINGS

Distal myopathy with rimmed vacuoles (DMRV) is a rare disease that has not previously been reported in Taiwan. This paper reports two siblin gs with DMRV. Each showed a different pattern of disease progression, one being slowly and the other rapidly progressive. Both patients' ini tial symptoms appeared in early adulthood, manifesting as muscular was ting and weakness of the legs, especially in the distal muscles. Sever e generalized involvement of skeletal muscles, with sparing of the fac ial, extraocular, bulbar, intercostal and diaphragm muscles was recogn ized in the advanced stage. The striking finding in their muscle biops y specimens was the presence of ''rimmed'' vacuoles. Magnetic resonanc e imaging showed more severe involvement of the anterior compartment m uscles of the lower legs. DMRV is thought to be inherited as an autoso mal recessive trait and is distinguishable from other types of distal myopathy on the basis of clinical and pathologic findings. The literat ure on the subject is reviewed with emphasis on the differences betwee n distal myopathic syndromes.