Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanAutosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
ORPHA:95433Disease
Also called Autosomal recessive spinocerebellar ataxia type 3 · Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome · SCABD · SCAR3
What it is
A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
18- Blindness
- Cochlear degeneration
- Conjunctival telangiectasia
- Elevated alpha-fetoprotein
- Gait ataxia
- Gait disturbance
- Head tremor
- Hearing impairment
- Impaired vibration sensation in the lower limbs
- Mildly elevated creatine kinase
- Nystagmus
- Optic atrophy
- Progressive cerebellar ataxia
- Proximal amyotrophy
- Sensorimotor neuropathy
- Sensory neuropathy
- Spastic dysarthria
- Spinocerebellar atrophy
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.