Autosomal recessive ataxia with oculomotor apraxia type 1 (Q96455): Difference between revisions
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Transtorno autossômico recessivo caracterizado por desenvolvimento de ataxia progressiva, apraxia oculomotora (dificuldade em movimentar os olhos de lado a lado), coreia e neuropatia axonal motora periférica primária. Associado a uma mutação no gene APTX que codifica a aprataxina e é mais comum em Portugal e no Japão. | |||
| description / en | description / en | ||
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. | |||
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 |
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| default for all languages | ID_25270506 |
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| 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. |
