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Summary
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE SPAX5
614487
OMIM = Online Medalian Inheritance of Men
313772
18p11.21
very rare
autosomal recessive
mutation in the AFG3L2 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
cognitive impairment
dysarthria
dysphagia
dystonia
epilepsy
hypertonia, spasticity
muscle atrophy
myoclonus
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
peripheral neuropathy
ptosis (drooping eyelid)
laboratory finding
Literature
Mudd SHHypermethioninemias of genetic and non-genetic origin: A reviewAm J Med Genet C Semin Med Genet15713-322011