Torsion Dystonia
by Yael Rosenberg, RN

   •  Description
   •  Symptoms
   •  Incidence and Carriers
   •  Treatment
   •  Testing
   •  Resources and More

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