Congenital muscular dystrophy due to lamin A/C mutation

disorder

SNOMED 771272007CUI C2750785

Overview

Congenital muscular dystrophy due to lamin A/C mutation 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.

Congenital muscular dystrophy

Always present (100%)HP:0003560

Delayed ability to roll over

Always present (100%)HP:0032989

Delayed ability to walk

Always present (100%)HP:0031936

Distal limb muscle weakness due to peripheral neuropathy

Always present (100%)HP:0002460

Muscle fiber atrophy

Always present (100%)HP:0100295

Proximal neurogenic muscle weakness

Always present (100%)HP:0003701

Upper limb muscle weakness

Always present (100%)HP:0003484

Achilles tendon contracture

Very frequent (80-99%)HP:0001771

Axial muscle weakness

Very frequent (80-99%)HP:0003327

Delay in head control

Very frequent (80-99%)HP:0002421

Elbow contracture

Very frequent (80-99%)HP:0034391

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Flaccid neck

Very frequent (80-99%)HP:0000467

Abnormal electromyography finding

Frequent (30-79%)HP:0003457

Cognitive delay

Frequent (30-79%)HP:0001263

Feeding difficulties

Frequent (30-79%)HP:0011968

Flexion contractures

Frequent (30-79%)HP:0001371

Flexion contractures of hips

Frequent (30-79%)HP:0003273

Gait disturbance

Frequent (30-79%)HP:0001288

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Loss of ambulation

Frequent (30-79%)HP:0002505

Muscle degeneration

Frequent (30-79%)HP:0003202

Muscular hypotonia

Frequent (30-79%)HP:0001252

Myopathy

Frequent (30-79%)HP:0003198

Prominent swayback

Frequent (30-79%)HP:0003307

Respiratory failure due to muscle weakness

Frequent (30-79%)HP:0002747

Respiratory function loss

Frequent (30-79%)HP:0002093

Scapuloperoneal atrophy

Frequent (30-79%)HP:0003697

Spinal rigidity

Frequent (30-79%)HP:0003306

Abnormal heart rate

Occasional (5-29%)HP:0011675

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital hereditary muscular dystrophy(parent)

Quick Facts

SNOMED CT: 771272007
UMLS CUI: C2750785
Fully Specified Name: Congenital muscular dystrophy due to lamin A/C mutation (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.