Christianson syndrome
Christianson Syndrome
Christianson Syndrome (pronounced: kris-ti-an-son sin-drome) is a rare genetic disorder first described by the South African pediatrician, Dr. John Christianson, in 1999.
Etymology
The syndrome is named after Dr. John Christianson who first identified the disorder in four brothers from a South African family.
Definition
Christianson Syndrome is a X-linked neurodevelopmental disorder characterized by intellectual disability, non-verbal communication, postnatal microcephaly, epilepsy, and problems with coordination and balance (ataxia).
Symptoms
The symptoms of Christianson Syndrome include:
Genetics
Christianson Syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein that is found in many parts of the body, but is particularly important in the brain. This protein, called NHE6, helps regulate the acidity of endosomes, which are compartments inside cells that sort and transport proteins.
Diagnosis
Diagnosis of Christianson Syndrome is based on clinical features and confirmed by genetic testing showing a mutation in the SLC9A6 gene.
Treatment
There is currently no cure for Christianson Syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, speech therapy, and medications to control seizures.
Prognosis
The prognosis for individuals with Christianson Syndrome varies. Some individuals may have a normal lifespan with supportive care, while others may have life-threatening complications.
See Also
External links
- Medical encyclopedia article on Christianson syndrome
- Wikipedia's article - Christianson syndrome
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