H00568 | |
H number | H00568 |
Name | Myotonic dystrophy |
Description | Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat in intron 1 of ZNF9. Therefore, both DMs are caused by a repeat expansion in a region transcribed into RNA but not translated into protein. The mutant RNA transcripts aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal dominant mode of inheritance and disease severity generally correlates with repeat length. |
Category | Nervous system disease; Musculoskeletal disease |
Network | - |
Gene | (DM1) DMPK [HSA:1760] [KO:K08788] (DM2) CNBP [HSA:7555] [KO:K09250] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8C71.0 ICD-10: G71.1 MeSH: D009223 OMIM: 160900 602668 |
Reference | PMID:16876389 AUTHORS Cho DH, Tapscott SJ TITLE Myotonic dystrophy: emerging mechanisms for DM1 and DM2. JOURNAL Biochim Biophys Acta 1772:195-204 (2007) DOI:10.1016/j.bbadis.2006.05.013 PMID:21496635 AUTHORS Ashizawa T, Sarkar PS TITLE Myotonic dystrophy types 1 and 2. JOURNAL Handb Clin Neurol 101:193-237 (2011) DOI:10.1016/B978-0-08-045031-5.00015-3 PMID:8595416 (DM1) AUTHORS Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL, et al. TITLE A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. JOURNAL Hum Mol Genet 4:1919-25 (1995) DOI:10.1093/hmg/4.10.1919 PMID:11486088 (DM2) AUTHORS Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP TITLE Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. JOURNAL Science 293:864-7 (2001) DOI:10.1126/science.1062125 |