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: