Torsion dystonia

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Torsion dystonia is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress througout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state.

The disease is caused by a genetic disorder which results in a defect in a protein called TorsinA. The mutation in the DYT1 gene, causes the loss of an amino acid, also known as glutamic acid, in the torsinA protein. The defective protein creates a disruption in the communication in neurons that control muscle movement and muscle control. This mutation is most usually inherited from a parent, but can occur sporadically (which science has no knowledge of the outside link). The disease is dominant in that the person affected only has to have one copy of the DYT1 gene to have symptoms. However, only 30 to 40 percent that do have the gene actually have symptoms leading researchers to believe that here is another outside factor involved.

There is no cure for torsion dystonia. However, there are several medical approaches that can be taken in order to lessen the symptoms of the disease. The treatment must be patient specific, taking into consideration all of the previous and current health complications. The doctor that creates the treatment must have intimate knowledge of the patients’ health and create a treatment plan that covers all of the symptoms focusing on the most chronic areas.

       The first step for most with the disorder begins with some form of physical therapy in order for the patient to gain more control over the areas that the disease is affecting.  The therapy can help the patient with their posture and gain control over the areas of their body that they have the most problems with.

The second step in the treatment process is beginning an oral medication. The medications focus on the chemicals released by neurotransmitters in the nervous system, which control muscle movement. The medications on the market today are Anticholinergics, Benzodiazepines, Baclofen, Dopaminergic agents/Dopamine-depleting agents, and Tetrabenezine. Each medication is started on a low dosage and gradually increased to higher doses as the disease progresses and the side effects are known for the individual. A more site specific medication is the injection of botulinum toxin. It is injected directly into the muscle and works much the same way the oral medications do by blocking the neurotransmitters. The injections are not a treatment for the disease, but are a means to control the symptoms of the disease. A fourth option in the treatment for the symptoms of Torsion Dystonia is surgery. Surgery is only performed if the patient does not respond to the oral medications or the injections. The type of surgery performed is specific to the type of Dystonia that the patient has.

The disease is more commonly found amongst Ashkenazi Jews. Dr. Gregory Cochran, when researching information linking genetic disorders and their possible link with Ashkenazi intelligence, said that "he became interested in the subject upon learning that patients with a particular Ashkenazic disease known as torsion dystonia were told by their physicians that 'the positive thing is that this makes you smart' " [1]. Interestingly, patients with torsion dystonia are reported to have an average IQ of about 122, which is quite a bit above average (average IQ = 100) [2].

Dystonia is related to Parkinson's disease, as TorsinA has scientifically been shown to have a neurotherapeutic effect on dopamine receptors.