Charcot-Marie-Tooth disease type 1A
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
genetic disorder peripheral neuropathy |
| gptkbp:alsoKnownAs |
CMT1A
hereditary motor and sensory neuropathy type 1A |
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:firstDescribed |
1991
|
| gptkbp:frequency |
1 in 5,000 to 1 in 10,000 people
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 1A
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
17p11.2
|
| gptkbp:mutationAssociatedWith |
gptkb:PMP22_gene
|
| gptkbp:OMIM |
118220
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
most common subtype of Charcot-Marie-Tooth disease
|
| gptkbp:relatedTo |
gptkb:Charcot-Marie-Tooth_disease
PMP22 duplication |
| gptkbp:symptom |
muscle weakness
difficulty walking foot deformities high arches (pes cavus) reduced sensation in limbs |
| gptkbp:treatment |
occupational therapy
physical therapy orthopedic devices no cure |
| gptkbp:bfsParent |
gptkb:PMP22
|
| gptkbp:bfsLayer |
7
|