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CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (CAPOS) [DD]

CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (CAPOS) [DD]
CAPOS -SYNDROME
601338
OMIM = Online Mendelian Inheritance of Men
1171
very rare
autosomal dominant
mutation in the ATP1A3 gene

The phenotype is still mistaken for mitochondrial/metabolic disorders[Stenshorne I 2019]
Laboratory findings    no specific laboratory findings (P, S, U ,CSF) ()
Symptoms    areflexia
    ataxia
    behavior, abnormal or bizarre, confusion
    blindness, visual loss, visual impairment
    dysarthria
    dysmetria
    dystonia
    encephalopathy
    eye movements, abnormal
    hearing defect, deafness
    hemiparesis/hemiplegia/hemiparetic cerebral palsy
    hypotonia
    muscle weakness
    nystagmus
    onset, childhood
    onset, infancy
    optic atrophy
    paresis
    pes cavus