Distal myopathy type 1

disorder

SNOMED 764859001CUI C4552004

Overview

Distal myopathy type 1 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.

Distal muscle weakness in lower limbs

Always present (100%)HP:0009053

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Hyporeflexia

Always present (100%)HP:0001265

Increased lumbar lordosis

Always present (100%)HP:0002938

Left atrial enlargement

Always present (100%)HP:0031295

Tibialis anterior amyotrophy

Always present (100%)HP:0011399

Walking on tiptoes

Always present (100%)HP:0030051

Weakness of long finger extensor muscles

Always present (100%)HP:0009077

Inability to heel walk

Very frequent (80-99%)HP:0009027

Abnormal calf muscles

Frequent (30-79%)HP:0001430

Abnormal mitochondria in muscle tissue

Frequent (30-79%)HP:0008316

Gait disturbance

Frequent (30-79%)HP:0001288

High arched palate

Frequent (30-79%)HP:0000218

Mildly elevated creatine kinase

Frequent (30-79%)HP:0008180

Minicore myopathy

Frequent (30-79%)HP:0003789

Muscle pain

Frequent (30-79%)HP:0003326

Progressive muscle weakness

Frequent (30-79%)HP:0003323

Scoliosis

Frequent (30-79%)HP:0002650

Talipes cavus equinovarus

Frequent (30-79%)HP:0004696

Type 1 muscle fiber predominance

Frequent (30-79%)HP:0003803

Weakness of orbicularis oculi muscle

Frequent (30-79%)HP:0012507

EMG: myopathic changes

Occasional (5-29%)HP:0003458

Proximal limb muscle weakness

Occasional (5-29%)HP:0003701

Proximal muscle weakness in lower limbs

Occasional (5-29%)HP:0008994

Stretched and thinned heart muscle

Occasional (5-29%)HP:0001644

Amyotrophy of ankle musculature

HP:0009031

EMG: neuropathic changes

HP:0003445

Facial muscle weakness of muscles innervated by CN VII

HP:0010628

Flaccid neck

HP:0000467

Pes cavus

HP:0001761

Related Conditions

Autosomal dominant hereditary disorder(parent)

Distal muscular dystrophy(parent)

Quick Facts

SNOMED CT: 764859001
UMLS CUI: C4552004
Fully Specified Name: Laing early-onset distal 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.