Statements (86)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
adults children muscles |
| gptkbp:alternativeName |
congenital_muscular_dystrophy
congenital_myopathy myopathy neuromuscular_disease neuromuscular_disorder |
| gptkbp:cause |
difficulty breathing
heart problems muscle weakness scoliosis difficulty walking muscle wasting loss of mobility |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:complication |
scoliosis
feeding difficulties cardiac involvement respiratory insufficiency |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing electromyography muscle biopsy blood tests |
| gptkbp:firstDescribed |
gptkb:Guillaume_Duchenne
19th century |
| gptkbp:frequency |
rare
|
| gptkbp:has_no_cure |
true
|
| gptkbp:hasOrphanetID |
ORPHA:99560
|
| gptkbp:ICD-10_code |
G71.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:is_caused_by |
genetic mutations
|
| gptkbp:is_inherited_as |
autosomal dominant
X-linked recessive autosomal recessive |
| gptkbp:MeSH_ID |
D009136
|
| gptkbp:OMIM |
254110
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
about 1 in 3,500 male births (Duchenne type)
|
| gptkbp:subspecies |
gptkb:Fukuyama_congenital_muscular_dystrophy
gptkb:Merosin-deficient_congenital_muscular_dystrophy gptkb:Muscle-eye-brain_disease gptkb:Walker-Warburg_syndrome gptkb:Ullrich_congenital_muscular_dystrophy gptkb:Becker_muscular_dystrophy gptkb:Duchenne_muscular_dystrophy gptkb:Emery-Dreifuss_muscular_dystrophy gptkb:facioscapulohumeral_muscular_dystrophy gptkb:limb-girdle_muscular_dystrophy gptkb:myotonic_dystrophy muscular dystrophy |
| gptkbp:symptom |
heart problems
respiratory problems hypotonia muscle weakness difficulty walking frequent falls muscle wasting delayed growth contractures enlarged calf muscles learning disabilities (in some types) progressive muscle weakness trouble rising from a lying or sitting position delayed motor milestones joint contractures |
| gptkbp:treatment |
orthopedic surgery
occupational therapy physical therapy cardiac care corticosteroids medications respiratory support assistive devices |
| gptkbp:bfsParent |
gptkb:EMG
gptkb:gene_therapy gptkb:CAST_(gene) gptkb:Cubicin gptkb:Vytorin |
| gptkbp:bfsLayer |
5
|