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
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
Search interest in DUX4
Potential gene panels for DUX4 gene
Facioscapulohumeral muscular dystrophy Panel
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
This panel specifically test the DUX4 gene.
More info about this panelFacioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype) Panel
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 panelHemato-oncology chromosomal microarray Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DNAJC6 SAMD11 NRAS CNTN1 PIK3R5 APP GNPTAB