A+ a-
Stay Connected Research News Discussion Forum Advocacy and Support Organizations Patient Meeting Calendar Movement Disorder Glossary Movement Disorders Virtual University Linkage Library
WE MOVE

Make a Donation
Ataxia
Bradykinesia
Choreoathetosis
Corticobasal Degeneration
Dyskinesias (Paroxysmal)
Dystonia
Essential Tremor
Hereditary Spastic Paraplegia
Huntington's Disease
Multiple System Atrophy
Myoclonus
Parkinson's Disease
Progressive Supranuclear Palsy
Restless Legs Syndrome
Rett Syndrome
Spasticity
Sydenham's Chorea
Tardive Dyskinesia
Tics
Tourette's Syndrome
Tremor
Wilson Disease
 

Other Familial Primary Dystonias

Additional families have also been described with autosomal dominant primary dystonias that have been excluded from the DYT1 region. These include kindreds with a form of primary dystonia that usually initially affects the neck (cervical) region, often spreads to involve head, and, in some instances, affects the arm. In addition, the dystonia has become generalized in a few cases. Symptom onset has occurred during childhood or adulthood. This type of dystonia, sometimes described as "familial cervical-cranial predominant dystonia," has been reported in some non-Jewish families, including Italian and North American kindreds. Research is ongoing to determine additional genes, specific gene mutations, and/or environmental factors that may play some role in causing primary dystonia in certain families.

Other familial primary dystonias that have been given specific "genetic designations" include the following:

  • DYT2: This genetic designation has been reserved by experts for any possible autosomal recessive form of familial primary dystonia. However, none has been confirmed to date.
  • DYT4: This refers to an autosomal dominant primary dystonia in a large, multigenerational Australian kindred affected by abductor ("whispering") spasmodic dysphonia (laryngeal dystonia). Although the dystonia first involved speech in most affected family members, a few initially were affected by dystonia of the neck region, later developing dysphonia. (For further information, see the section entitled "Anatomical distribution, focal dystonia, laryngeal dystonia.")

Researchers expect that additional familial primary dystonias will be described that may map to other, currently unknown genetic loci. (For further information on dystonias that have been given specific genetic designations, please see the section entitled "Genetic Designations for the Dystonias.")