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

Question 1

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

Accepted Answer

very rare

autosomal dominant

mutation in the ATP1A3 gene

The phenotype is still mistaken for mitochondrial/metabolic disorders[Stenshorne I 2019]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 601338

Disease	CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS (CAPOS) [DD]
Synonym	CAPOS -SYNDROME
OMIM	601338 OMIM = Online Mendelian Inheritance of Men
Orphanet	1171
Gene locus
ICD
Summary	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