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Start free with EleplanEpisodic ataxia type 1
ORPHA:37612Disease
Also called Episodic ataxia with myokymia
What it is
A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Key facts
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000Hereditary episodic ataxia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
10Sometimes5–29%
14- Calf muscle hypertrophy
- Cerebellar atrophy
- Choreoathetosis
- Craniofacial disproportion
- Delayed speech and language development
- Hand clenching
- Hypertonia
- Kyphoscoliosis
and 6 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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