Orphanet: Infantile onset autosomal recessive nonprogressive cerebellar ataxia

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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Disease definition

A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.

ORPHA:284332

Classification level: Disorder

Synonym(s):
- Autosomal recessive spinocerebellar ataxia type 6
- SCAR6
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: G11.0
OMIM: 608029
UMLS: C1842676
MeSH: -
GARD: 4954
MedDRA: -

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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

ORPHA:284332

A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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