released
December 12th, 2019 at 12:21am
Details
Details
definition
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy
and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. (EFO)
namespace
http://www.ebi.ac.uk/efo
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preferred_name
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
source_ontologies
term_id
EFO:0010249
term_name
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
term_url
http://www.ebi.ac.uk/efo/EFO_0010249