KEGG   DISEASE: Myotonic dystrophy
Entry
H00568                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00568  Myotonic dystrophy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C71  Myotonic disorders
     H00568  Myotonic dystrophy
Gene
(DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) ZNF9 [HSA:7555] [KO:K09250]
Other DBs
ICD-11: 8C71.0
ICD-10: G71.1
MeSH: D009223
OMIM: 160900 602668
Reference
  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
Reference
  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

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