Fukuyama congenital muscular dystrophy
GPTKB entity
Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease muscular dystrophy |
| gptkbp:abbreviation |
FCMD
|
| gptkbp:affects |
gptkb:skeletal_muscle
brain eyes |
| gptkbp:category |
muscular dystrophy
pediatric disease |
| gptkbp:causedBy |
mutation in the FKTN gene
|
| gptkbp:complication |
respiratory failure
cardiomyopathy feeding difficulties |
| gptkbp:containsGene |
FKTN
|
| gptkbp:firstDescribed |
gptkb:Yukio_Fukuyama
1960 |
| https://www.w3.org/2000/01/rdf-schema#label |
Fukuyama congenital muscular dystrophy
|
| gptkbp:ICD-10_code |
G71.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
253800
|
| gptkbp:prevalence |
most common in Japan
|
| gptkbp:symptom |
hypotonia
intellectual disability muscle weakness seizures facial weakness delayed motor development joint contractures |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy nutritional support respiratory support seizure management |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
6
|