Juvenile muscular atrophy of a unilateral upper extremity (Hirayama disease) in a patient with CHARGE syndrome

T. Yagihashi, K. Hatori, K. Ishii, C. Torii, S. Momoshima, T. Takahashi, K. Kosaki

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CHARGE syndrome is an autosomal dominant congenital anomaly syndrome, and the causative gene is CHD7. We report a patient with a CHD7 mutation who presented with juvenile muscular atrophy of a unilateral upper extremity, a presumably heterogeneous condition that is also known as Hirayama disease. This association has not been previously described. Weakness and atrophy of the hands should be carefully examined in patients with CHARGE syndrome, since Hirayama disease might be a possible complication in adolescent patients with this syndrome.

Original languageEnglish
Pages (from-to)91-94
Number of pages4
JournalMolecular Syndromology
Issue number2
Publication statusPublished - 2010 Dec 1



  • CHARGE syndrome
  • CHD7
  • Hirayama disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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