Phenotype #0000359851

Individual ID 00475137
Associated disease ataxia
Diagnosis/Initial ataxia
Diagnosis/Definite SPAX11
Phenotype details see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; decreased vibration; bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy; motor evoked potentials; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials
Inheritance Familial, autosomal dominant
Age/Examination 42y (42 years)
Age/Onset 30y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-04-02 14:28:57 +02:00 (CEST)
Date last edited N/A

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