MPRM - myopathy, proximal, with early respiratory muscle involvement

disorder

SNOMED 702373006CUI C1863599

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Decreased vital capacity

Frequent (30-79%)HP:0002792

Difficulty breathing

Frequent (30-79%)HP:0002094

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Gait disturbance

Frequent (30-79%)HP:0001288

Inability to heel walk

Frequent (30-79%)HP:0009027

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Internally nucleated skeletal muscle fibers

Frequent (30-79%)HP:0031237

Limited hip movement

Frequent (30-79%)HP:0008800

Muscle fiber splitting

Frequent (30-79%)HP:0003555

Neck flexion weakness

Frequent (30-79%)HP:0003722

Necrotizing myopathy

Frequent (30-79%)HP:0008978

Neurogenic muscle atrophy, especially in the lower limbs

Frequent (30-79%)HP:0003202

Nocturnal under breathing

Frequent (30-79%)HP:0002877

Orthopnea

Frequent (30-79%)HP:0012764

Respiratory failure due to muscle weakness

Frequent (30-79%)HP:0002747

Restrictive respiratory disease

Frequent (30-79%)HP:0002091

Rimmed vacuoles

Frequent (30-79%)HP:0003805

Scapula alata

Frequent (30-79%)HP:0003691

Type 1 muscle fiber predominance

Frequent (30-79%)HP:0003803

Achilles tendon contracture

Occasional (5-29%)HP:0001771

Distal limb muscle weakness due to peripheral neuropathy

Occasional (5-29%)HP:0002460

Increased size of calf muscles

Occasional (5-29%)HP:0008981

Muscle fiber hypertrophy

Occasional (5-29%)HP:0100293

Proximal neurogenic muscle weakness

Occasional (5-29%)HP:0003701

Tibialis muscle weakness

Occasional (5-29%)HP:0008963

Falls

Very rare (1-4%)HP:0002527

Diaphragmatic paraparesis

HP:0009113

Frequent falls

HP:0002359

Hip-girdle muscle weakness

HP:0003749

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Respiratory failure(parent)

Proximal myopathy(parent)

Quick Facts

SNOMED CT: 702373006
UMLS CUI: C1863599
Fully Specified Name: Hereditary myopathy with early respiratory failure (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.