limb-girdle muscular dystrophy
GPTKB entity
Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
pelvic girdle muscles shoulder girdle muscles |
| gptkbp:complication |
respiratory problems
loss of mobility cardiac involvement |
| gptkbp:diagnosedBy |
genetic testing
electromyography muscle biopsy blood tests |
| gptkbp:firstDescribed |
1954
|
| https://www.w3.org/2000/01/rdf-schema#label |
limb-girdle muscular dystrophy
|
| gptkbp:ICD-10_code |
G71.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D009135
|
| gptkbp:mutationAssociatedWith |
various genes
|
| gptkbp:namedAfter |
limb girdle
|
| gptkbp:OMIM |
253600
|
| gptkbp:onset |
childhood
adolescence adulthood |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:studiedBy |
stem cell therapy
gene therapy |
| gptkbp:subspecies |
gptkb:LGMD1
gptkb:LGMD2 |
| gptkbp:symptom |
muscle weakness
muscle wasting |
| gptkbp:treatment |
occupational therapy
physical therapy medications orthopedic devices |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
6
|