Autosomal recessive ataxia with oculomotor apraxia type 1 (Q96455): Difference between revisions

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Latest revision as of 12:27, 16 August 2026

Autosomal recessive disorder characterized by development of progressive ataxia, oculomotor apraxia (difficulty moving eyes side to side), chorea and primary motor peripheral axonal neuropathy. Associated with a mutation in the APTX gene coding for aprataxin and is most common in Portugal and Japan.

Language	Label	Description	Also known as
default for all languages	ID_25270506
English	Autosomal recessive ataxia with oculomotor apraxia type 1	Autosomal recessive disorder characterized by development of progressive ataxia, oculomotor apraxia (difficulty moving eyes side to side), chorea and primary motor peripheral axonal neuropathy. Associated with a mutation in the APTX gene coding for aprataxin and is most common in Portugal and Japan.