distal myopathy with vocal cord weakness
ORPHA: 600
Overview
Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction
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 distal myopathy with vocal cord weakness, sourced from HPO and Orphanet clinical annotations.
DysarthriaBulbar palsyHyperreflexiaAbnormal calf musculature morphologyVocal cord paresisHoarse voiceHypernasal speechWeak voiceDysphagiaUnsteady gaitDistal muscle weaknessRespiratory insufficiency due to muscle weaknessAspirationEMG abnormalityExercise-induced myalgiaRimmed vacuolesImperfect vocal cord adductionAmyotrophic lateral sclerosisMildly elevated creatine kinaseBowing of the vocal cordsAnkle weaknessAbnormal morphology of musculature of pharynxShoulder girdle muscle weaknessDistal upper limb amyotrophyAbnormality of the extraocular musclesDementiaDecreased nerve conduction velocityDistal sensory impairmentGait disturbance
Classification & Codes
Orphanet Code
ORPHA:600distal myopathy with vocal cord weakness
| Orphanet | ORPHA:600 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO