| H00704 | |
| H番号 | H00704 |
| 名称 | 眼球咽頭型筋ジストロフィー |
| 概要 | Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is caused by expansions of the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and there is little morphologic evidence for neurogenic etiology, though the peripheral nervous system (PNS) seems to be affected in some rare cases. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | PABPN1 [HSA:8106] [KO:K14396] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9C82.1 ICD-10: G71.0 MeSH: D039141 OMIM: 164300 |
| 文献 | PMID:17110089 著者 Abu-Baker A, Rouleau GA タイトル Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. 雑誌 Biochim Biophys Acta 1772:173-85 (2007) DOI:10.1016/j.bbadis.2006.10.003 PMID:19080757 著者 Brais B タイトル Oculopharyngeal muscular dystrophy: a polyalanine myopathy. 雑誌 Curr Neurol Neurosci Rep 9:76-82 (2009) DOI:10.1007/s11910-009-0012-y PMID:22001477 著者 Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N タイトル Oculopharyngeal muscular dystrophy associated with dementia. 雑誌 Intern Med 50:2409-12 (2011) DOI:10.2169/internalmedicine.50.5577 |