Rinsho Shinkeigaku (Clinical Neurology)

Case Report

Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry

Yukio Mizuno, M.D.1)2), Madoka Mori-Yoshimura, M.D., Ph.D.1), Yasushi Oya, M.D.1), Atsuko Nishikawa, M.D.3), Ichizo Nishino, M.D., Ph.D.3)4) and Yuji Takahashi, M.D., Ph.D.1)

1)Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry
2)Department of Neurology, Yokohama Asahi Chuo General Hospital
3)Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry
4)Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry

Nemaline myopathy commonly presents with symmetrical proximal weakness. Here we report two cases of nemaline myopathy presenting with distal dominant involvement with prominent asymmetry. Case 1 was a 37-year-old man who recalled frequently falling down and had right calf atrophy since he was 3-years-old. He had right calf muscle atrophy and weakness and steppage gait; his cardiopulmonary function was normal. Case 2 was a 35-year-old man with right calf muscle atrophy and weakness since childhood. He had right dominant distal leg weakness and atrophy together with respiratory failure and started noninvasive positive pressure ventilation. He also developed cardiomyopathy and died from acute respiratory failure due to pneumonia at age 39. Both cases harbored compound heterozygous nebulin (NEB) mutations with c.20131 C>T:p.Arg6711Trp and a nonsense mutation. Nemaline myopathy associated with NEB mutations can present as distal dominant myopathy with prominent asymmetry.
Full Text of this Article in Japanese PDF (971K)

(CLINICA NEUROL, 57: 691|697, 2017)
key words: nemaline myopathy, nebulin (NEB), atrophy of distal limbs, prominent asymmetry, cardiomyopathy

(Received: 16-Mar-17)