Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

disorder

SNOMED 782752005CUI C5190594

Overview

Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bilateral nerve deafness

Frequent (30-79%)HP:0008619

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Fatty replacement of skeletal muscle

Frequent (30-79%)HP:0012548

Husky voice

Frequent (30-79%)HP:0001609

Hyporeflexia

Frequent (30-79%)HP:0001265

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Mildly elevated creatine kinase

Frequent (30-79%)HP:0008180

Mitochondrial swelling

Frequent (30-79%)HP:0030774

Muscle weakness, progressive, distal

Frequent (30-79%)HP:0009063

Myopathy

Frequent (30-79%)HP:0003198

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Structural foot deformity

Frequent (30-79%)HP:0010219

Areflexia

Occasional (5-29%)HP:0001284

Proximal limb muscle weakness

Occasional (5-29%)HP:0003701

Tremor

Occasional (5-29%)HP:0001337

Arthritis

Very rare (1-4%)HP:0001369

Epilepsy

Very rare (1-4%)HP:0001250

Related Conditions

Hearing loss associated with syndrome(parent)

Chronic nervous system disease(parent)

Chronic musculoskeletal disorder(parent)

Myoneural disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Sensorineural hearing loss(parent)

Autosomal dominant distal hereditary motor neuropathy(parent)

Chronic deafness(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 782752005
UMLS CUI: C5190594
Fully Specified Name: Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.