Hereditary motor and sensory neuropathy
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurological disorder
|
| gptkbp:abbreviation |
gptkb:HMSN
|
| gptkbp:affects |
peripheral nerves
|
| gptkbp:alsoKnownAs |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:category |
hereditary neuropathy
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:firstDescribed |
gptkb:Pierre_Marie
gptkb:Jean-Martin_Charcot gptkb:Howard_Henry_Tooth |
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary motor and sensory neuropathy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
1 in 2,500 people
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:subspecies |
gptkb:CMT1
gptkb:CMT2 gptkb:CMT3 gptkb:CMT4 gptkb:CMTX |
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:treatment |
occupational therapy
physical therapy orthopedic devices |
| gptkbp:bfsParent |
gptkb:G60.0
|
| gptkbp:bfsLayer |
7
|