Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.

@article{Nonaka1981FamilialDM,
  title={Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.},
  author={Ikuya Nonaka and Nobuhiko Sunohara and Shoichi Ishiura and Eijiro Satoyoshi},
  journal={Journal of the neurological sciences},
  year={1981},
  volume={51 1},
  pages={141-55}
}
Three cases from 2 families had muscle weakness with predilection for distal extremities, predominantly affecting the tibialis anterior muscles, and onset in early adulthood. The disorder seemed to be inherited through an autosomal recessive trait. The EMG demonstrated a myopathic pattern and CPK was mildly elevated. The striking finding in their muscle biopsies was the presence of "rimmed" vacuoles which had acid phosphatase-positive autophagic activity and which contained numerous concentric… CONTINUE READING