autosomaal dominante spastische paraplegie type 3 (aandoening)
autosomaal dominante spastische paraplegie type 3
autosomaal dominante spastische paraparese type 3
Autosomal dominant spastic paraplegia type 3
Strumpell disease
A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22.
Clinical courseprogressief
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermCerebellaire ataxie met stoornis in DNA-reparatie
SNOMED CT to Orphanet simple map100984
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.3
CorrelationSNOMED CT source code to target map code correlation not specified