spinocerebellar ataxia with axonal neuropathy type 3

Term ID

DOID:0070465

Synonyms

• autosomal recessive spinocerebellar ataxia with axonal neuropathy 3
• SCAN3
• spinocerebellar ataxia with axonal neuropathy 3

Definition

An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. https://pubmed.ncbi.nlm.nih.gov/29718187/

References

• OMIM:618387

Ontology

Human Disease   ( DOID:0070465 )