Dystonia 1

DYSTONIA 1:

Dystonia 1 (idiopathic torsion dystonia) is the most common and most severe form of dystonia and is characterized by involuntary posturing of the neck or trunk. Dystonia 1 typically progresses from focal involvement in the teen years, to twitching in a limb to the loss of the ability to walk in about 3 years. Dystonia 1 is most common in the Ashkenazim Jewish population but it has also been found in the non-Jewish population.

In the dystonia gene (DYT1) (chromosome 9q32-q34), virtually all cases of dystonia (90% have been linked to the same deletion of 3bp coding for one of a pair of glutamic acid residues (GAGGAG; glu-glu)). Dystonia 1 is an autosomal dominant disorder, therefore, the risk of passing the disease on to children is 50%.

REASONS FOR REFERRAL:

To determine whether Dyt1 is responsible for abnormal twitching in one of the limbs.
To discriminate between syndromes with similar symptoms.
To evaluate the risk of having a child with Dyt1.
Individuals at risk who wish prenatal diagnosis.

TESTING METHODOLOGY:

PCR amplification and size analysis.

SPECIMEN REQUIREMENTS:

Blood EDTA (purple top) tubes:

Newborn: minimum 1-2 mL

Child/Adult: prefer 2 tubes of 3-5 mL

Prenatal testing: Please contact the laboratory for instructions.

A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.

TURNAROUND TIME: 10 working days

CPT CODES: