Rinsho Shinkeigaku (Clinical Neurology)

Case Report

Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure

Reika Aoki, M.D.1), Norito Kokubun, M.D., Ph.D.1), Tomoko Komagamine, M.D., Ph.D.1), Yuko Ishii, M.D., Ph.D.1), Ichizo Nishino, M.D., Ph.D.2) and Koichi Hirata, M.D., Ph.D.1)

1)Department of Neurology, Dokkyo Medical University
2)Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)

Hereditary myopathy with early respiratory failure (HMERF) with heterozygous mutations in the titin gene (TTN) is characterized by respiratory failure developing from the early phase of limb weakness or gait disturbance. Here, we describe a characteristic distribution of muscle involvement in three members of a HMERF family with a TTN mutation. Despite the differences in severity exhibited among the father, daughter and son, the systemic imaging studies showed a similar pattern among these individuals. The semitendinosus and fibularis longus muscles were selectively affected, as described previously. In addition, we found marked atrophy in the sternocleidomastoid and psoas major muscles, regardless of the disease severity. The atrophy in selective trunk muscles observed in routine CT scans can be useful for the differential diagnosis of hereditary myopathies with heart and respiratory failure.
Full Text of this Article in Japanese PDF (695K)

(CLINICA NEUROL, 60: 334|339, 2020)
key words: HMERF, TTN, hereditary myopathy, respiratory failure

(Received: 7-Oct-19)