hereditary spastic paraplegia
GPTKB entity
Statements (34)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
neurological disorder |
gptkbp:affects |
corticospinal tract
|
gptkbp:alsoKnownAs |
gptkb:HSP
|
gptkbp:alternativeName |
hereditary_motor_and_sensory_neuropathy
|
gptkbp:characterizedBy |
progressive weakness and spasticity of the legs
|
gptkbp:complication |
bladder dysfunction
wheelchair dependence |
gptkbp:diagnosedBy |
neurological examination
genetic testing |
gptkbp:firstDescribed |
1880
|
https://www.w3.org/2000/01/rdf-schema#label |
hereditary spastic paraplegia
|
gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
gptkbp:mutationAssociatedWith |
gptkb:SPG3A_gene
gptkb:SPG4_gene gptkb:SPG7_gene |
gptkbp:namedFor |
gptkb:Adolph_Strümpell
|
gptkbp:onset |
childhood
adulthood |
gptkbp:prevalence |
rare
|
gptkbp:relatedTo |
primary lateral sclerosis
|
gptkbp:subspecies |
complex HSP
pure HSP |
gptkbp:symptom |
muscle stiffness
urinary urgency spastic gait mild sensory loss |
gptkbp:treatment |
physical therapy
assistive devices antispasticity medications |
gptkbp:bfsParent |
gptkb:Spastic_Paraplegia_Association
|
gptkbp:bfsLayer |
5
|