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Adult-onset autosomal recessive cerebellar ataxia
Disease definition
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.
ORPHA:284289
Classification level: Disorder- Synonym(s):
- Autosomal recessive spinocerebellar ataxia type 10
- SCAR10
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Adult
- ICD-10: G11.2
- OMIM: 613728
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)
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