episodic ataxia type 1
ORPHA: 37612
Overview
episodic ataxia characterized by attacks of ataxia lasting seconds/minutes induced by emotion/stress with myokymia during/between attacks; onset during childhood/adolescence; caused by mutation of KCNA1 encoding voltage-gated potassium channel KV1.1
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with episodic ataxia type 1, sourced from HPO and Orphanet clinical annotations.
Postural instabilityIncoordinationMyokymiaBlurred visionDiplopiaHyperhidrosisDysarthriaNauseaClumsinessHeadacheVertigoMuscle spasmMuscle stiffnessDelayed speech and language developmentHand clenchingChoreoathetosisMotor delayCerebellar atrophyHypertoniaSpecific learning disabilityRespiratory distressMyotoniaScoliosisKyphoscoliosisCraniofacial disproportionCalf muscle hypertrophyTip-toe gait
Classification & Codes
Orphanet Code
ORPHA:37612episodic ataxia type 1
| Orphanet | ORPHA:37612 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO