Orphanet: Autosomal recessive spastic ataxia optic atrophy dysarthria syndrome

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Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Disease definition

A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.

ORPHA:254343

Classification level: Disorder

Synonym(s):
- Autosomal recessive spastic ataxia type 4
- SPAX4
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
ICD-10: E88.8
OMIM: 613672
UMLS: -
MeSH: -
GARD: 10992
MedDRA: -

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Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

ORPHA:254343

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