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Dystonia Idiopathic Torsion Disease

We report two siblings who are suffering from a dystonic syndrome, clinically indistinguishable from idiopathic torsion dystonia (dystonia musculorum deformans) but with cranial computerized tomographic scan findings of basal ganglia lesions, similar to that reported in Wilson's disease An estimate of the mean degree of generalization of the disease at different times from onset was calculated and a curve of the estimated temporal evolution was drawn DMD and Oppenheim disease are terms now used for childhood- and adolescent-onset dystonia due to the DYT1 gene. With the recent mapping of genes for idiopathic torsion dystonia and identification of a gene for early onset dystonia, the description primary, or idiopathic, dystonia has evolved; it now may be viewed as secondary to or symptomatic of an identified cause. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. The rate of evolution was not influenced by gender or familiarity Although secondary forms of dystonia are frequently associated with structural lesions of the basal ganglia and thalamus, no consistent histologic or biochemical findings are noted in primary torsion dystonia Besides motor control difficulties, defective sensory processing is described . Current models of basal ganglia circuitry have been adapted and suggesting dysfunction at the basal ganglia level The present statistical method of estimating the evolution in different patient groups should be useful especially for the evaluation of therapeutic interventions.

Idiopathic torsion dystonia (ITD) is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body Initially believed to be a manifestation of hysteria, idiopathic torsion dystonia gradually became established as a neurologic entity with a genetic basis. A form of dystonia known as early-onset torsion dystonia (also called generalized torsion dystonia) begins in childhood around the age of 12. In order to take advantage of all data regarding the evolution of the disease, independently of the length of follow-up, we have used a life table method of analysis. The course of the disease seemed more deleterious in non-Ashkenazic Jews. Abnormal brain networks have been described in different functional imaging studies; this is substantial evidence implicating dysfunction in dopaminergic pathways in the pathophysiology of primary torsion dystonia (Eidelberg, 1998; Perlmutter, 2004). The prevalence in the Ashkenazi Jewish population is approximately five to ten times higher, due to a founder mutation. Treatment options include botulinum toxin injections for focal symptoms, pharmacological therapy such as anticholinergics (most commonly trihexyphenydil) for generalized dystonia and surgical approaches such as deep brain stimulation of the internal globus pallidus in severe cases.

Causes of Dystonia Idiopathic Torsion Disease

Some common causes of Dystonia Idiopathic Torsion Disease :

  • Antipsychotic drugs can cause various types of dystonia, including involuntary shutting of the eyelids (blepharospasm), involuntary twisting of the neck (spasmodic torticollis), grimacing, and repetitive involuntary movements of the mouth and tongue (tardive dyskinesia).
  • Abnormalities in the processing of information in these pathways are thought to underlie the various movement disorders such as Parkinson's disease, Huntington's disease, tremor, and dystonia.
  • Almost 50% of children and adolescents with dystonia reported a family history of dystonia, compared with approximately 10-13% of patients with torticollis, laryngeal or brachial dystonia.
  • Causes of dystonia have historically consisted of 2 main groups: idiopathic (or primary) and symptomatic (or secondary) (Fahn, 1998).
  • Thus intellect, personality, memory, emotions, hearing, sensation and function are quite normal in patients with primary Dystonia, although those affected are often in a great deal of pain and can feel isolated, depressed, angry and obtrusive.

Symptoms of Dystonia Idiopathic Torsion Disease

Some common symptoms of Dystonia Idiopathic Torsion Disease :

  • Early symptoms of dystonia may include a deterioration in handwriting, foot cramps, tremor, voice or speech difficulties, and a tendency of one foot to pull up or drag while walking.
  • Anxiety, lower back pain, and fatigue are all symptoms.
  • Symptoms of early-onset torsion dystonia, also called idiopathic or generalized torsion dystonia, usually surface in childhood around the age of 12.
  • Generalized dystonia, the most severe form, can present as twisting movements of the head, trunk, and arms, completely disabling the affected individual.
  • Symptoms may be improved by touching various parts of the body in a phenomenon called a "sensory trick."

Treatment of Dystonia Idiopathic Torsion Disease

  • Patients with focal dystonia often are best treated with targeted methods, including injections of botulinum toxin or surgery.
  • All dystonia patients should be thoroughly questioned about medication use, and if an antidopaminergic agent is being used, it should be discontinued.
  • In the neurological examination the dystonic involuntary movements of the neck, trunk and limbs, more expressed on the right side, were observed.
  • Dystonia that is associated or caused by known etiologies such as drugs, Wilson's disease, or dopa-responsive dystonia may be improved by treating the underlying disease with resolution of symptoms.
  • Symptomatic treatment can alleviate chorea, although this is not typically the most disabling aspect of the illness; indications to treat chorea include interference with activities of daily living and social embarrassment


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