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Start free with EleplanEarly-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
ORPHA:313772Disease
Also called AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome · Autosomal recessive spastic ataxia type 5 · SPAX5
What it is
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
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%
24- Abnormal mitochondria in muscle tissue
- Ataxia
- Bilateral tonic-clonic seizure
- Cerebellar atrophy
- Cerebellar hypoplasia
- Demyelinating peripheral neuropathy
- Distal amyotrophy
- Distal muscle weakness
- Dysdiadochokinesis
- Dysmetria
- Dysphagia
- Dystonia
- EEG abnormality
- Generalized myoclonic seizure
- Intellectual disability, mild
- Lower limb muscle weakness
- Myoclonus
- Oculomotor apraxia
- Peripheral axonal neuropathy
- Ptosis
- Sensorimotor neuropathy
- Spastic dysarthria
- Spasticity
- Spastic paraparesis
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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