proximal myotonic myopathy
ORPHA: 606
Overview
human disease
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 proximal myotonic myopathy, sourced from HPO and Orphanet clinical annotations.
CataractMyotoniaSkeletal muscle atrophyMyalgiaAxial muscle weaknessProximal muscle weaknessSensorineural hearing impairmentDysphagiaConstipationAbdominal painMuscle stiffnessDecreased circulating immunoglobulin concentrationType II diabetes mellitusPosterior subcapsular cataractInsulin insensitivityMale hypogonadismHyperhidrosisExcessive daytime somnolenceBrisk reflexesCardiomyopathySleep disturbanceObstructive sleep apneaAbnormality of thyroid physiologyHyperlipidemiaCalf muscle hypertrophyFatigueRestless legsWeakness of facial musculatureCardiac conduction abnormalityCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:606proximal myotonic myopathy
| Orphanet | ORPHA:606 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO