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

Tatsuhiko Yagihashi | Zendy; Kozo Hatori | Zendy; Katsumi Ishii | Zendy; Chiharu Torii | Zendy; Suketaka Momoshima | Zendy; Takao Takahashi | Zendy; Kenjirou Kosaki | Zendy

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

Author(s) -

Tatsuhiko Yagihashi,

Kozo Hatori,

Katsumi Ishii,

Chiharu Torii,

Suketaka Momoshima,

Takao Takahashi,

Kenjirou Kosaki

Publication year - 2010

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000315525

Subject(s) - atrophy , charge syndrome , medicine , disease , juvenile , pediatrics , pathology , genetics , biology , psychiatry

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.

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