proximal myopathy with extrapyramidal signs
ORPHA: 401768
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 myopathy with extrapyramidal signs, sourced from HPO and Orphanet clinical annotations.
Global developmental delayGait disturbanceDystoniaChoreaOrofacial dyskinesiaResting tremorIncreased variability in muscle fiber diameterCentrally nucleated skeletal muscle fibersProximal muscle weaknessInvoluntary movementsProgressive extrapyramidal movement disorderProgressive extrapyramidal muscular rigidityDifficulty runningAbnormal basal ganglia MRI signal intensityCentral core regions in muscle fibersMicrocephalyPtosisOphthalmoplegiaOptic atrophyAtaxiaPeripheral axonal neuropathyMildly elevated creatine kinase
Classification & Codes
Orphanet Code
ORPHA:401768proximal myopathy with extrapyramidal signs
| Orphanet | ORPHA:401768 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO