DUX4 gene related symptoms and diseases

All the information presented here about the DUX4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DUX4 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Abnormality of cardiovascular system morphology Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Hyperlordosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DUX4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • EMG abnormality
  • Mask-like facies
  • Palpebral edema
  • Abnormal eyelash morphology
  • Abnormality of the retinal vasculature
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Rare diseases associated to DUX4 gene

Here you will find a list of rare diseases related to the DUX4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FACIOSCAPULOHUMERAL DYSTROPHY


Alternate names

FACIOSCAPULOHUMERAL DYSTROPHY Is also known as fsh dystrophy, fshd, landouzy-dejerine myopathy, facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy

Description

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

Most common symptoms of FACIOSCAPULOHUMERAL DYSTROPHY

  • Sensorineural hearing impairment
  • Skeletal muscle atrophy
  • Abnormality of cardiovascular system morphology
  • Elevated serum creatine phosphokinase
  • Hyperlordosis


More info about FACIOSCAPULOHUMERAL DYSTROPHY

SOURCES: ORPHANET


Potential gene panels for DUX4 gene

Facioscapulohumeral muscular dystrophy Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario

This panel specifically test the DUX4 gene.

More info about this panel

Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype) Panel

Portugal.

By CGC Genetics Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype) that also includes the following genes: SMCHD1 DUX4

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel


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