Hereditary inclusion body myopathy

disorder

SNOMED 702382000CUI C1853926

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.

Fatty replacement of skeletal muscle

Very frequent (80-99%)HP:0012548

Inability to heel walk

Very frequent (80-99%)HP:0009027

Lower limb muscle weakness

Very frequent (80-99%)HP:0007340

Mildly elevated creatine kinase

Very frequent (80-99%)HP:0008180

Muscle fiber inclusion bodies

Very frequent (80-99%)HP:0100299

Rimmed vacuoles

Very frequent (80-99%)HP:0003805

Tibialis muscle weakness

Very frequent (80-99%)HP:0008963

Absent Achilles reflex

Frequent (30-79%)HP:0003438

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

EMG: myopathic changes

Frequent (30-79%)HP:0003458

EMG: myotonic discharges

Frequent (30-79%)HP:0100284

EMG: positive sharp waves

Frequent (30-79%)HP:0030007

Hip flexor weakness

Frequent (30-79%)HP:0012515

Hypothyroidism

Frequent (30-79%)HP:0000821

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Limited shoulder movement

Frequent (30-79%)HP:0006467

Limited wrist extension

Frequent (30-79%)HP:0006251

Shoulder girdle muscle weakness

Frequent (30-79%)HP:0003547

Steppage gait

Frequent (30-79%)HP:0003376

Abnormality of the foot musculature

Occasional (5-29%)HP:0001436

Abnormality of the right hemidiaphragm

Occasional (5-29%)HP:0040047

Facial muscle weakness of muscles innervated by CN VII

Occasional (5-29%)HP:0010628

Lower limb amyotrophy

Occasional (5-29%)HP:0007210

Muscle weakness

Occasional (5-29%)HP:0001324

Scapula alata

Occasional (5-29%)HP:0003691

Shoulder girdle muscle wasting

Occasional (5-29%)HP:0003724

Disease of the heart muscle

Very rare (1-4%)HP:0001638

Weakness of long finger extensor muscles

Very rare (1-4%)HP:0009077

Deposits immunoreactive to beta-amyloid protein

HP:0003791

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

Related Conditions

Myopathy with cytoplasmic inclusions(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 702382000
UMLS CUI: C1853926
Fully Specified Name: Inclusion body myopathy 2 (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.