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Episodic ataxia type 1
Disease definition
A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
ORPHA:37612
Classification level: Disorder- Synonym(s):
- Episodic ataxia with myokymia
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: -
- ICD-10: G11.8
- OMIM: 160120
- UMLS: C1719788
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Professionals
- Summary information
- Japanese (2019, pdf)
- Clinical practice guidelines
- Deutsch (2012)
- Clinical genetics review
- English (2018)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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