peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
ORPHA: 397744
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 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, sourced from HPO and Orphanet clinical annotations.
Decreased nerve conduction velocityHyporeflexiaHoarse voiceMyopathyEMG: myopathic abnormalitiesIncreased variability in muscle fiber diameterLower limb muscle weaknessMildly elevated creatine kinaseBilateral sensorineural hearing impairmentProgressive distal muscle weaknessPeripheral neuropathyStructural foot deformityFatty replacement of skeletal muscleMitochondrial swellingAreflexiaTremorProximal muscle weaknessSeizureArthritis
Classification & Codes
Orphanet Code
ORPHA:397744peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
| Orphanet | ORPHA:397744 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO