[Autosomal dominant distal myopathy with rimmed vacuoles and cytoplasmic inclusions: report of a family].
We reported four patients with distal myopathy in the same family. Muscle weakness and atrophy started in the lower extremities, especially in the calf muscle, and it extended to the upper extremities and pelvic muscles to a variable extent. Facial and bulbar muscles were slightly involved in one case. The anterior tibial muscle tended to be better preserved than the calf muscle. Cardiac abnormalities were absent in any case. Serum creatine kinase activity was normal or mildly elevated. Skeletal muscle biopsies revealed myopathic process presenting rimmed vacuoles, eosinophilic cytoplasmic inclusions and/or subsarcolemmal mass. Ultrastructurally, cytoplasmic inclusions were composed of electron dense granular material and intermediate-sized filaments. There were membranous whorls and myelin-like figures which were the characteristic findings of rimmed vacuoles. Immunohistochemistry revealed accumulation of desmin, dystrophin and vimentin in the cytoplasm of degenerating muscle fibers and in the inclusion. In present patients, cardiac function was normal and the tibialis anterior muscle was relatively spared. These features were different from the autosomal dominant rimmed-vacuolar myopathy with desmin storage described in previous reports.
Uesaka
Y
Y
Department of Neurology, Toranomon Hospital.
Nakamichi
K
K
Kojima
S
S
Ida
M
M
Takagi
A
A
D000328:Adult; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D014617:Vacuoles / Q000648:ultrastructure