Facioscapulohumeral muscular dystrophy

disorder

SNOMED 399091004CUI C0238288

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.

Mask-like facies

Very frequent (80-99%)HP:0000298

Muscle degeneration

Very frequent (80-99%)HP:0003202

Progressive muscle weakness

Very frequent (80-99%)HP:0003323

Prominent swayback

Very frequent (80-99%)HP:0003307

Scapular weakness

Very frequent (80-99%)HP:0003691

Abdominal protuberance

Frequent (30-79%)HP:0001538

Abnormality of retina blood vessels

Frequent (30-79%)HP:0008046

Beevor's sign

Frequent (30-79%)HP:0030664

Camptocormia

Frequent (30-79%)HP:0100595

Chronic pain

Frequent (30-79%)HP:0012532

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Conjunctivitis

Frequent (30-79%)HP:0000509

Corneal inflammation

Frequent (30-79%)HP:0000491

Decreased facial expression

Frequent (30-79%)HP:0004673

Distal upper limb muscle weakness

Frequent (30-79%)HP:0008959

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Frequent falls

Frequent (30-79%)HP:0002359

Gait disturbance

Frequent (30-79%)HP:0001288

Inability to close the eyelids at night

Frequent (30-79%)HP:0030002

Inability to heel walk

Frequent (30-79%)HP:0009027

Lax abdominal musculature

Frequent (30-79%)HP:0009023

Limb-girdle muscle weakness

Frequent (30-79%)HP:0003325

Pectus excavatum

Frequent (30-79%)HP:0000767

Restrictive respiratory disease

Frequent (30-79%)HP:0002091

Right bundle-branch block

Frequent (30-79%)HP:0011712

Sensorineural deafness

Frequent (30-79%)HP:0000407

Steppage gait

Frequent (30-79%)HP:0003376

Straight collarbone

Frequent (30-79%)HP:0006587

Wasting of pec muscles

Frequent (30-79%)HP:0012037

Weakness of face

Frequent (30-79%)HP:0030319

Related Conditions

Autosomal dominant muscular dystrophy not predominantly limb girdle(parent)

Quick Facts

SNOMED CT: 399091004
UMLS CUI: C0238288
Fully Specified Name: Facioscapulohumeral muscular dystrophy (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.