DUX4L1 gene related symptoms and diseases
All the information presented here about the DUX4L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DUX4L1 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 DUX4L1 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 DUX4L1 gene
Here you will find a list of rare diseases related to the DUX4L1. 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
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