Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:95433

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Also called Autosomal recessive spinocerebellar ataxia type 3, Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, SCABD, SCAR3

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Childhood
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:95433 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Gait disturbance
  • Hearing impairment
  • Conjunctival telangiectasia
  • Blindness
  • Nystagmus
  • Optic atrophy