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Spinocerebellar ataxia autosomal recessive 1
- Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in ...
- ... with oculomotor apraxia and hypoalbuminemia Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 Ataxia-oculomotor apraxia type 1 Ataxia-oculomotor apraxia type 4 Spinocerebellar ataxia with ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show ... National Organization for Rare Disorders (NORD) ...
- ... deficiency CoQ deficiency Primary CoQ10 deficiency Ubiquinone deficiency Autosomal recessive ataxia due to ubiquinone deficiency Coenzyme Q10 deficiency National Organization for Rare Disorders (NORD) COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 NEPHROTIC ...
- ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. MEMSA SCAE Spinocerebellar ataxia with epilepsy Genetic Testing Registry: Spinocerebellar ataxia with ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry ... hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, ...
- ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ... disease-like 1 Genetic Testing Registry: Huntington disease-like 2 Genetic ...
