Zellweger spectrum disorders
Zellweger spectrum disorders are a group of
Signs and symptoms
The symptoms of the disorders can vary from every patient. Most symptoms are noticeable at birth. There is often lack in growth and muscle tone as the child develops. Also the disorders involve neurological problems. This would include frequent
Facial abnormalities are also often common with patients. Including a small chin, upturned nostrils, and a mouth with a highly arched roof. There are also a variety of eye abnormalities that could happen. The eye abnormalities including clouding of the
Infants with the disorder can also have abnormalities including their organs. They might have a large spleen or liver, as well as heart defects. Including holes in the heart, and high blood pressure. Due to the lack of muscle tone, infants can face respiratory problems as the disease progresses.[citation needed]
Causes
Zellweger spectrum disorders are a group of autosomal recessive
Diagnosis
Definite diagnosis requires evaluation of peroxisomal functions.[5] Mutation analysis is done from fibroblast cell lines.[6]
Treatment
Treatment may involve a team of specialists. This would include
Early intervention is important when treating someone with these disorders. Special education, physical therapy, and other medical services to aid the child through treatment. There are medical trials taking place to learn more about these disorders. Most infants that are diagnosed do not live past 6 months. It can be diagnosed by a blood test looking for PEX genes in the body.[clarification needed][7]
Epidemiology
It occurs in 1 in 50,000 individuals.[8]
References
- ^ "zellweger". Zellweger UK. Retrieved 20 February 2018.
- ^ "Zellweger Spectrum Disorders". University of Michigan. Retrieved 20 February 2018.
- ^ "Zellweger Spectrum Disorder". National Organization of Rare Diseases. Retrieved 20 February 2018.
- ^ "Zellweger Syndrome". Hereditary Ocular Diseases. Retrieved 20 February 2018.
- ^ PMID 26287655.
- S2CID 24977902.
- ^ "Zellweger Spectrum Disorder". Johns Hopkins Medicine. Retrieved 20 February 2018.
- ^ "Zellweger Spectrum Disorders". U.S National Library of Medicine. Retrieved 20 February 2018.