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Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

Disease definition

A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.

ORPHA:466794

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spinocerebellar ataxia type 21
    • SCAR21
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.0
  • OMIM: 616719
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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