Preferred Name | Duchenne muscular dystrophy | |
Synonyms |
|
|
Definitions |
(DMD): Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. |
|
ID |
http://purl.obolibrary.org/obo/OMIM_310200 |
|
definition |
(DMD): Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. |
|
has_obo_namespace |
cell_cycle_ontology |
|
id |
OMIM:310200 |
|
label |
Duchenne muscular dystrophy |
|
notation |
OMIM:310200 |
|
prefLabel |
Duchenne muscular dystrophy |
|
treeView | ||
subClassOf |