Nemaline myopathy, late onset type

disorder

SNOMED 129622008CUI C0546123

Overview

Nemaline myopathy, late onset type 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.

EMG: myopathic changes

Very frequent (80-99%)HP:0003458

Myopathy

Very frequent (80-99%)HP:0003198

Nemaline rods

Very frequent (80-99%)HP:0003798

Increased muscle lipid content

Frequent (30-79%)HP:0009058

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Muscle pain

Frequent (30-79%)HP:0003326

Neck flexion weakness

Frequent (30-79%)HP:0003722

Paraproteinemia

Frequent (30-79%)HP:0031047

Slowness of movements

Frequent (30-79%)HP:0002067

Type 1 muscle fiber predominance

Frequent (30-79%)HP:0003803

Upper limb muscle weakness

Frequent (30-79%)HP:0003484

Bulbar signs

Occasional (5-29%)HP:0002483

Decreased projection of mandible

Occasional (5-29%)HP:0000347

Decreased vital capacity

Occasional (5-29%)HP:0002792

Feeding difficulties

Occasional (5-29%)HP:0011968

Flexion contractures

Occasional (5-29%)HP:0001371

Gait disturbance

Occasional (5-29%)HP:0001288

High arched palate

Occasional (5-29%)HP:0000218

Hyporeflexia

Occasional (5-29%)HP:0001265

Lower limb muscle weakness

Occasional (5-29%)HP:0007340

Muscle fibrillation

Occasional (5-29%)HP:0010546

Muscle stiffness

Occasional (5-29%)HP:0003552

Neuromuscular dysphagia

Occasional (5-29%)HP:0002068

Respiratory failure due to muscle weakness

Occasional (5-29%)HP:0002747

Stretched and thinned heart muscle

Occasional (5-29%)HP:0001644

Thin face

Occasional (5-29%)HP:0000275

Vertical enlargement of face

Occasional (5-29%)HP:0000276

Mildly elevated creatine kinase

Very rare (1-4%)HP:0008180

Related Conditions

Nemaline myopathy(parent)

Quick Facts

SNOMED CT: 129622008
UMLS CUI: C0546123
Fully Specified Name: Nemaline myopathy, late onset type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.