Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia (Q94014): Difference between revisions
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Ataxia com apraxia do oculomotor tipo é um distúrbio neurológico pertencente ao grupo das ataxias cerebelares autossômicas recessivas caracterizadas por ataxia precoce (entre 2 e 6 anos de idade) da marcha, disartria, dismetria de membros (na evolução da doença) e apraxia do oculomotor. Há também fraqueza e perda muscular distal e simétrica, leve perda de vibração e sensação de posição articular e progressão lenta. | |||
| description / en | description / en | ||
Ataxia with oculomotor apraxia 1 (AOA1) is a neurological disorder belonging to the group of autosomal recessive cerebellar ataxias characterised by early onset gait ataxia (between 2 and 6 years of age), dysarthria, limb dysmetria (later in disease course), oculomotor apraxia, distal and symmetric muscle weakness and wasting, mild loss of vibration and joint position sense and slow progression. | |||
Revision as of 09:07, 16 August 2026
Ataxia with oculomotor apraxia 1 (AOA1) is a neurological disorder belonging to the group of autosomal recessive cerebellar ataxias characterised by early onset gait ataxia (between 2 and 6 years of age), dysarthria, limb dysmetria (later in disease course), oculomotor apraxia, distal and symmetric muscle weakness and wasting, mild loss of vibration and joint position sense and slow progression.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1071655898 |
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| English | Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia |
Ataxia with oculomotor apraxia 1 (AOA1) is a neurological disorder belonging to the group of autosomal recessive cerebellar ataxias characterised by early onset gait ataxia (between 2 and 6 years of age), dysarthria, limb dysmetria (later in disease course), oculomotor apraxia, distal and symmetric muscle weakness and wasting, mild loss of vibration and joint position sense and slow progression. |
