Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome

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. Th...

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Published inMolecular syndromology Vol. 1; no. 2; pp. 91 - 94
Main Authors Yagihashi, T., Hatori, K., Ishii, K., Torii, C., Momoshima, S., Takahashi, T., Kosaki, K.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.01.2010
Subjects
Short Report
CHARGE syndrome
Hirayama disease
CHD7
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Summary: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.
ISSN:1661-8769
1661-8777
DOI:10.1159/000315525