|
gptkbp:instanceOf
|
gptkb:hereditary_spastic_paraplegia
neurological disorder
|
|
gptkbp:affects
|
peripheral nerves
|
|
gptkbp:alsoKnownAs
|
gptkb:HMSN_type_III
gptkb:hereditary_motor_and_sensory_neuropathy_type_III
gptkb:hypertrophic_interstitial_neuropathy_of_infancy
|
|
gptkbp:characterizedBy
|
onion bulb formation in nerves
|
|
gptkbp:diagnosedBy
|
genetic testing
nerve biopsy
|
|
gptkbp:firstDescribed
|
1893
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Dejerine–Sottas disease
|
|
gptkbp:ICD-10_code
|
gptkb:G60.0
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:mutationAssociatedWith
|
gptkb:PMP22_gene
gptkb:EGR2_gene
gptkb:MPZ_gene
gptkb:PRX_gene
|
|
gptkbp:namedAfter
|
gptkb:Joseph_Jules_Dejerine
gptkb:Jules_Sottas
|
|
gptkbp:OMIM
|
145900
|
|
gptkbp:onset
|
early childhood
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:progression
|
slowly progressive
|
|
gptkbp:symptom
|
muscle weakness
sensory loss
delayed motor milestones
areflexia
foot deformities
|
|
gptkbp:treatment
|
supportive care
physical therapy
orthopedic devices
|
|
gptkbp:bfsParent
|
gptkb:MPZ
gptkb:EGR2
|
|
gptkbp:bfsLayer
|
7
|