A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.

Synonyms:

Myotonic dystrophy type 1

Steinert disease

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273
hasDbXref
  • ICD-10:G71.1
  • MeSH:C538008
  • OMIM:160900
  • UMLS:C2931688
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409948
  • http://www.orpha.net/ORDO/Orphanet_409947
  • http://www.orpha.net/ORDO/Orphanet_409946
  • http://www.orpha.net/ORDO/Orphanet_409945
  • http://www.orpha.net/ORDO/Orphanet_409944
  • http://www.orpha.net/ORDO/Orphanet_409943
has annual incidence range
  • http://www.orpha.net/ORDO/Orphanet_409976
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409929
has point prevalence average value
  • 7.9
  • 11.95
  • 9.31
  • 9.13
  • 210.5
  • 10.4
  • 0.46
  • 5.0
  • 20.0
  • 5.3
  • 18.1
  • 76.3
  • 5.7
  • 12.5
  • 14.3
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409980
  • http://www.orpha.net/ORDO/Orphanet_409978
  • http://www.orpha.net/ORDO/Orphanet_409977
  • http://www.orpha.net/ORDO/Orphanet_409976
  • http://www.orpha.net/ORDO/Orphanet_409975
notation
  • ORPHA:273
part of
  • http://www.orpha.net/ORDO/Orphanet_217595
  • http://www.orpha.net/ORDO/Orphanet_519347
  • http://www.orpha.net/ORDO/Orphanet_98033
  • http://www.orpha.net/ORDO/Orphanet_98648
  • http://www.orpha.net/ORDO/Orphanet_522522
  • http://www.orpha.net/ORDO/Orphanet_98578
  • http://www.orpha.net/ORDO/Orphanet_206647
present in
  • http://www.orpha.net/ORDO/Orphanet_409992
  • http://www.orpha.net/ORDO/Orphanet_410188
  • http://www.orpha.net/ORDO/Orphanet_409991
  • http://www.orpha.net/ORDO/Orphanet_410100
  • http://www.orpha.net/ORDO/Orphanet_410224
  • http://www.orpha.net/ORDO/Orphanet_410047
  • http://www.orpha.net/ORDO/Orphanet_410102
  • http://www.orpha.net/ORDO/Orphanet_410207
  • http://www.orpha.net/ORDO/Orphanet_410092
  • http://www.orpha.net/ORDO/Orphanet_410196
  • http://www.orpha.net/ORDO/Orphanet_410097
  • http://www.orpha.net/ORDO/Orphanet_409984

Term relations

Subclass of: