Dystonia 2, torsion, autosomal recessive

Other Names: DYT2; Torsion dystonia 2; Torsion dystonia 2, autosomal recessive type; Dystonia musculorum deformans type 2

Definition

Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.

Epidemiology

The exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families.

Clinical description

The onset of the symptoms is early in childhood or adolescence. Progression to generalized dystonia is possible.

Cause

(DYT2) is caused by homozygous or compound heterozygous mutation in the HPCA gene (142622) on chromosome 1p35.

Inheritance

The DYT2 locus is unknown. Autosomal recessive transmission is suggested.

Autosomal recessive inheritance, a 25% chance

Symptoms For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Torsion dystonia

30%-79% of people have these symptoms

• Blepharospasm(Eyelid spasm)
• Difficulty walking(Difficulty in walking)
• Dysarthria(Difficulty articulating speech)
• Feeding difficulties(Feeding problems)
• Limb dystonia
• Torticollis(Wry neck)
• Tremor

5%-29% of people have these symptoms

• Generalized dystonia

Treatment

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition

• Botulinum toxin type A (Brand name: Botox) 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).

NIH genetic and rare disease info

• NIH info on Dystonia 2, torsion, autosomal recessive

Dystonia 2, torsion, autosomal recessive is a rare disease.