disease: Ataxia-oculomotor apraxia type 1
| id | 347 |
|---|---|
| name | Ataxia-oculomotor apraxia type 1 |
| description | Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. Oculomotor apraxia, usually noticed a few years after the onset of ataxia, progresses to external ophthalmoplegia. All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. Intellect remains normal in some individuals; in others, different degrees of cognitive impairment have been observed. |
| variant-disease |
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) AND Ataxia-oculomotor apraxia type 1 NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) AND Ataxia-oculomotor apraxia type 1 NM_001195248.2(APTX):c.602A>G (p.His201Arg) AND Ataxia-oculomotor apraxia type 1 NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) AND Ataxia-oculomotor apraxia type 1 NM_001195248.2(APTX):c.697A>T (p.Lys233Ter) AND Ataxia-oculomotor apraxia type 1 ... 12 more |