myotonia permanens
ORPHA: 99735
Overview
very rare, persistent and more severe form of potassium-aggravated myotonia
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 myotonia permanens, sourced from HPO and Orphanet clinical annotations.
EpicanthusOphthalmoparesisOphthalmoplegiaIntellectual disabilityHypertoniaGait disturbanceMuscle weaknessLimitation of joint mobilityAbnormality of the voiceDysphagiaDyspneaAsthmaMyotoniaHyperlordosisMyalgiaMuscle spasmEMG abnormalitySkeletal muscle hypertrophyGeneralized muscle hypertrophyShort statureChest pain
Classification & Codes
Orphanet Code
ORPHA:99735myotonia permanens
| Orphanet | ORPHA:99735 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO