By Barbra Thompson
Medical Researcher

Reviewed by Bernard Abrams, MD
Medical Director

Posted: 6/4/2010

Idiopathic Torsion Dystonia

Idiopathic torsion dystonia is characterized by onset of dystonia(ambnormal movements, posture, and gait)., usually starting in the feet, in children 6 to 9 years of age. The dystonia spreads to involve lower limbs, trunk, upper limbs, neck and cranial structures.

Etiology

Historically, dystonia has been classified into 2 main etiologic groups: idiopathic(primary) and symptomatic(secondary). It has become clearer that idiopathic dystonia consists of a group of clinical syndromes that are likely to have a genetic basis. Idiopathic dystonia is a genetically heterogeneous disease. Its mode of inheritance is usually autosomal dominant with reduced penetrance.

Symptoms

Symptoms of idiopathic torsion dystonia include contortions, difficulty walking, foot drag, cramps, difficulty grasping objects, speech difficulty, physical deformities and muscle contractions.

Complications

Patients may experience prolonged posturing of the wrists which may produce carpal tunnel syndrome. Accelerated cervical spondylosis may occur with cervical myelopathy developing.

Treatment

Treatment of dystonia must be individualized, and it depends not only on severity of symptoms, but the cause and anatomic distribution. Drug treatment with anticholinergic drugs such as Trihexyphenidyl, Carbidopa, Carbamazepine, and Baclofen in high doses seems to be the best available form of oral medication.
Surgery may be an option for patients who are resistant to drug therapy. Myectomies, tendon lengthening operations, spinal corrective surgery and thalamotomy may be considered as a final option.

Prognosis

Most patients stabilize after adolescence and remain functionally independent, however, some may be incapacitated with generalized deformity. In young patients prognosis is poor. In most cases, idiopathic torsion dystonia is thought to be inherited and an individual with a known family history of autosomal dominant idiopathic torsion dystonia, is therefore, considered to be at risk for developing disease.

Developments

Currently, there are many ongoing studies being conducted involving the drug therapy and surgeries relating to this type of dystonia.

Alternative Names

Idiopathic torsion dystonia is also know as Dystonia musculorum deformans, Generalized dystonia, Primary dystonia, Fragments of torsion dystonia and Oppenheim’s dystonia