distal hereditary motor neuropathy type II
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:alternativeName |
dHMN II
distal hereditary motor neuronopathy type II distal spinal muscular atrophy type II |
| gptkbp:differentialDiagnosis |
gptkb:Charcot-Marie-Tooth_disease
spinal muscular atrophy |
| gptkbp:firstDescribed |
1960s
|
| https://www.w3.org/2000/01/rdf-schema#label |
distal hereditary motor neuropathy type II
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:HSPB1_gene
BSCL2 gene HSPB8 gene IGHMBP2 gene |
| gptkbp:OMIM |
158590
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
muscle atrophy
muscle weakness foot deformities reduced or absent reflexes |
| gptkbp:treatment |
supportive care
physical therapy orthopedic devices |
| gptkbp:bfsParent |
gptkb:HSP27
|
| gptkbp:bfsLayer |
7
|