Typical nemaline myopathy

disorder

SNOMED 1197153000CUI C5680453

Overview

Typical nemaline myopathy 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.

Axial muscle weakness

Frequent (30-79%)HP:0003327

Congenital hypotonia

Frequent (30-79%)HP:0001319

Facial palsy

Frequent (30-79%)HP:0010628

Fatigable weakness of distal limb muscles

Frequent (30-79%)HP:0030198

Gait disturbance

Frequent (30-79%)HP:0001288

High arched palate

Frequent (30-79%)HP:0000218

Hyporeflexia

Frequent (30-79%)HP:0001265

Inability to heel walk

Frequent (30-79%)HP:0009027

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Limb-girdle muscle weakness

Frequent (30-79%)HP:0003325

Neck flexion weakness

Frequent (30-79%)HP:0003722

Respiratory insufficiency

Frequent (30-79%)HP:0002093

Type 1 muscle fiber predominance

Frequent (30-79%)HP:0003803

Arthrogryposis multiplex

Occasional (5-29%)HP:0002804

Bilateral facial weakness

Occasional (5-29%)HP:0001349

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Decreased muscle movement

Occasional (5-29%)HP:0002375

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Elevated circulating creatine phosphokinase

Occasional (5-29%)HP:0003236

Eyelid ptosis

Occasional (5-29%)HP:0000508

Fatigable weakness of respiratory muscles

Occasional (5-29%)HP:0030196

Fatiguable weakness of proximal limb muscles

Occasional (5-29%)HP:0030200

Feeding difficulties

Occasional (5-29%)HP:0011968

Flexion contractures

Occasional (5-29%)HP:0001371

Genu valga

Occasional (5-29%)HP:0002857

Genua vara

Occasional (5-29%)HP:0002970

Hydramnios

Occasional (5-29%)HP:0001561

Hypoplastic mandible condyle

Occasional (5-29%)HP:0000347

Low chest circumference

Occasional (5-29%)HP:0000774

Myopathy

Occasional (5-29%)HP:0003198

Related Conditions

Nemaline myopathy, early onset type(parent)

Autosomal hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 1197153000
UMLS CUI: C5680453
Fully Specified Name: Typical nemaline myopathy (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.