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autosomaal recessieve cerebellaire ataxie met oculomotorische apraxie type 1 (aandoening)
autosomaal recessieve cerebellaire ataxie met oculomotorische apraxie type 1
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
Ataxia oculomotor apraxia type 1
AOA1 (ataxia oculomotor apraxia type 1)
Autosomal recessive ataxia with oculomotor apraxia type 1
A rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed.
Id715366004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG11.3
RuleTRUE
AdviceALWAYS G11.3
CorrelationSNOMED CT source code to target map code correlation not specified