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Torsion Dystonia
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Description
Torsion Dystonia is an autosomal dominant genetic disease where a
single gene mutation can lead to the genetic disease. Torsion dystonia
is a movement disorder involving uncontrollable and sustained muscle
contractions resulting in repetitive movements and distortions of the
body, due to a neurological dysfunction.
Symptoms
There are a number of symptoms associated with Torsion
Dystonia which include:
· Twisting of the body
· Uncontrollable and sustained muscle
contractions
· Difficulty ambulating
· Poor posture
· Difficulty grasping objects
· Cramps in the hands and feet
· Foot Drag
Incidence and Carriers
Incidence: 1/6,000 - 1/2,000 in those of Jewish
ancestry.
Carriers: Not yet determined
Treatment
Treatment is supportive. This means
that what is treated are the symptoms such as the movement disorders, seizures
and feeding problems.
Testing
Diagnosis: Made upon finding an increased level of
NAA in the urine. The abnormally high levels of NAA lead to a loss of
insulation and spongy degeneration of the brain.
Screening for Canavan disease carriers requires molecular diagnostic
methods, unlike Tay-Sachs which is screened using simple enzyme testing.
When both parents are carriers of a Canavan disease gene, prenatal DNA
diagnosis can be done by chorionic villus sampling (CVS) or
amniocentesis.
Resources and More
The Victor Outreach and Screening Program for
Ashkenazi Jewish Genetic Diseases of Tufts Medical Center
Victor Center for Jewish Genetic Diseases
Albert Einstein Medical Center
5501 Old York Road
Philadelphia, PA
215-456-8722
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