Rinsho Shinkeigaku (Clinical Neurology)

Brief Clinical Note

A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy

Daisuke Yamamoto, M.D., Ph.D.1), Ryosuke Oda, M.D.1), Shin Hisahara, M.D., Ph.D.1), Aki Ishikawa, M.D., Ph.D.2), Tomoo Ogi, Ph.D.3) and Shun Shimohama, M.D., Ph.D.1)

1) Department of Neurology, Sapporo Medical University School of Medicine
2) Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine
3) Department of Research Institute of Environmental Medicine, Nagoya University

A 33-year-old man with an unremarkable family history has had limb muscle weakness, joint contracture and skeleton deformation from early childhood. He was diagnosed with spinal muscular atrophy (SMA) by a pediatrician. He needed assistance and used orthoses in his daily life. There was no subjective sensory disturbance. However, physical examination showed slight sensory impairment, and nerve conduction study indicated sensory motor axonal neuropathy. This finding suggested Charcot-Marie-Tooth disease (CMT). Gene analysis detected MORC2 S87L mutation, leading to a diagnosis of CMT type 2Z. Patients withMORC2 S87L mutation are known to exhibit a severe phenotype, and may mimic SMA. It is important to demonstrate subclinical sensory neuropathy in patients with MORC2 S87L mutation mimicking SMA.
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(CLINICA NEUROL, 61: 262−264, 2021)
key words: CMT2Z, MORC2 S87L, spinal muscular atrophy

(Received: 5-Sep-20)