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Christianson Syndrome

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About

Christianson Syndrome is a condition that occurs due to changes in the SLC9A6 gene leading to the production of inadequate or defective NHE6 protein. This abnormal protein is thought to affect the nervous system. However the mechanism is unclear.

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Christianson syndrome is a genetic disease that is transmitted through the affected X chromosome. Males have only one chromosome, while females have two X chromosomes in each cell. Thus, males get affected with Christianson Syndrome if the existing one X chromosome is affected. On the other hand, both the X chromosomes need to be affected in females to exhibit this condition.

Christianson Syndrome

Females can exist as carriers if only one X chromosome is affected. In carrier state, they can pass this condition to their offspring and/or exhibit symptoms of Christianson Syndrome of mild severity.

Males are more commonly affected in comparison to females. In general, it is a very rare condition.

Signs and Symptoms of Christianson Syndrome

Symptoms of Christianson Syndrome usually present during infancy, but they can even present in older children. The syndrome usually affects the nervous system.

Affected kids have problems with development, walking, standing, reasoning and coordination. Some children might learn to walk, but eventually they loose the ability to walk.

Seizures are common in this condition, which usually start to appear between the ages of 1 and 2 years. Usually children with this condition look happy with frequent/ spontaneous laughter.

Symptoms related to nervous system:

Developmental delay
Difficulty walking or standing
Seizures
Difficulty in logical thinking, reasoning
Uncontrolled drooling
Difficulty in maintaining balance and coordination
Inability to speak
Difficulty swallowing

Christianson Syndrome: Symptoms

Signs of Christianson Syndrome:

Long, narrow face with prominent nose, jaw and ears
Abnormal eye movements
Open mouth
Small size of the head(Microcephaly)
Autistic spectrum disorder

Diagnosis and Treatment of Christianson Syndrome

Molecular genetic testing confirms the diagnosis of Christianson syndrome. Diagnosis of Christianson syndrome is based on the following:

Genetic testing: Demonstration of the defect in the gene helps in the diagnosis of Christainson syndrome.

MRI: MRI of the brain shows several changes which are diagnostic of Christianson syndrome.

Christianson Syndrome: MRI scan

Elevated glutamate/ glutamine levels are found in the basal ganglia of individuals affected with this condition.

Treatment of Christinanson Syndrome:

No specific treatment is available for Christianson syndrome. Symptomatic treatment with supportive care is the main stay of management for this condition. Prognosis is poor.

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Is there any global statistical data for this syndrome?
Imayavaramban Monday, August 11, 2014

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