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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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




If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EBF3 PXDN CYP11B2 KDM2B GIGYF2 SSR4 SCN3A

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more