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Start free with EleplanAutosomal recessive spastic ataxia of Charlevoix-Saguenay
ORPHA:98Disease
Also called ARSACS · Autosomal recessive spastic ataxia type 6 · SPAX6
What it is
A rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, a pyramidal syndrome and peripheral neuropathy.
Key facts
- Prevalence
- 6-9 / 10 000 (at birth, Specific population)
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- 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%
27- Abnormal cerebellum morphology
- Abnormality of the cerebellar peduncle
- Abnormality of the pons
- Abnormal motor evoked potentials
- Abnormal pyramidal sign
- Arachnoid cyst
- Ataxia
- Babinski sign
- Cerebellar atrophy
- Cerebellar vermis hypoplasia
- Demyelinating peripheral neuropathy
- Dysarthria
- Dysmetria
- Gait disturbance
- Gaze-evoked horizontal nystagmus
- Hypermyelinated retinal nerve fibers
- Hypoplasia of the corpus callosum
- Lower limb spasticity
- Mitral valve prolapse
- Muscle weakness
- Parietal cortical atrophy
- Peripheral neuropathy
- Progressive cerebellar ataxia
- Sensorimotor neuropathy
- Spasticity
- Unsteady gait
- Urinary incontinence
Sometimes5–29%
10- Abnormal foot morphology
- Absent Achilles reflex
- Atypical behavior
- Distal amyotrophy
- Dysphagia
- Foot dorsiflexor weakness
- Gait ataxia
- Impaired tactile sensation
and 2 more in this range
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.
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