What are the other Names for this Condition? (Also known as/Synonyms)

• Dystonia Musculorum Deformans Type 2
• Primary Dystonia, DYT2 type
• Torsion Dystonia 2, Autosomal Recessive type

What is Autosomal Recessive Torsion Dystonia 2? (Definition/Background Information)

• Primary Dystonia, DYT2 type (or Autosomal Recessive Torsion Dystonia 2) is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.
• The exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families
• The onset of the symptoms is early in childhood or adolescence. Progression to generalized dystonia is possible
• The DYT2 locus is unknown. Autosomal recessive transmission is suggested

(Source: Autosomal Recessive, Torsion, Dystonia 2; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Autosomal Recessive Torsion Dystonia 2? (Age and Sex Distribution)

• Autosomal Recessive Torsion Dystonia 2 is a rare congenital disorder. The presentation of symptoms may be seen in young children or adolescents
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected. however, the condition is often only described among certain individuals of Jewish descendants or Gypsy families

What are the Risk Factors for Autosomal Recessive Torsion Dystonia 2? (Predisposing Factors)

• A positive family history may be an important risk factor, since Autosomal Recessive Torsion Dystonia 2 can be inherited
• Currently, no risk factors have been clearly identified for the condition 

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Autosomal Recessive Torsion Dystonia 2? (Etiology)

• Autosomal Recessive Torsion Dystonia 2 is reportedly a genetic disorder that may be inherited in an autosomal recessive manner

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Autosomal Recessive Torsion Dystonia 2?

The signs and symptoms of Autosomal Recessive Torsion Dystonia 2 may include:

• Blepharospasm
• Dysarthria
• Dysphagia
• Torsion dystonia
• Torticollis
• Tremor

(Source: Autosomal Recessive, Torsion, Dystonia 2; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Autosomal Recessive Torsion Dystonia 2 Diagnosed?

Autosomal Recessive Torsion Dystonia 2 is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Autosomal Recessive Torsion Dystonia 2?

The complications of Autosomal Recessive Torsion Dystonia 2 may include:

• Severe pain
• Academic performance of children may be affected
• Vision defects

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Autosomal Recessive Torsion Dystonia 2 Treated?

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of Autosomal Recessive Torsion Dystonia 2:

• Botulinum toxin type A
• FDA-approved indication: Treatment of cervical dystonia in adults to decrease the severity of abnormal head position and neck pain associated with cervical dystonia. Treatment of blepharospasm or strabismus associated with dystonia in adults (patients 12 years of age and above)

(Source: Autosomal Recessive, Torsion, Dystonia 2; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Autosomal Recessive Torsion Dystonia 2 be Prevented?

Currently, Autosomal Recessive Torsion Dystonia 2 may not be preventable, since it is reportedly a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Autosomal Recessive Torsion Dystonia 2? (Outcomes/Resolutions)

• The prognosis of Autosomal Recessive Torsion Dystonia 2 is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Autosomal Recessive Torsion Dystonia 2:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/