Torsion Dystonia
Genetics and Genomics
Obie Editorial Team
Torsion Dystonia is a progressive genetic disorder that causes painful and debilitating muscle contractions. The most common form of the disease is early-onset with symptoms appearing in childhood. At first, patients experience involuntary muscle contractions in one or more body parts, but contractions eventually become more pronounced.
Who is at Risk?
The Ashkenazi Jewish population carries the highest risk of Torsion Dystonia. People of Ashkenazi Jewish decent are up to 10 times more likely to suffer from the condition. Only one parent needs to carry the gene for Torsion Dystonia to affect children. About 40% of people carrying the gene will develop symptoms. This means children can receive the gene from a parent and never develop symptoms. Researchers and geneticists believe there are other contributing factors that control the development of Torsion Dystonia.
Symptoms
Muscle contractions are the only symptom of Torsion Dystonia. Contractions may start in one area of the body and progress to other areas. For instance, patients may present with uncontrollable muscle contractions in the right leg. Eventually the muscle contractions move to the left leg then the right arm, left arm, neck and so on until the patient is confined to a wheelchair.
Complications
Loss of muscle control is the main complication of Torsion Dystonia. Patients will eventually end up in a wheelchair due to pain and lack of muscle control.
Diagnosis
Patients are diagnosed based on family history and symptoms.
Treatment
Treatment for Torsion Dystonia is based on symptoms and severity. Some cases of the disease do not progress over time, so patients have only minimal symptoms that tend to be more pronounced when they are fatigued or stressed. In other cases, symptoms are progressive and cause unrelenting muscle spasms. In these cases, patients are treated for muscle spasms and may be given pain medications to reduce pain.
There is a long list of muscle relaxants available to patients. Depending on the case and underlying conditions, doctors typically cycle through available muscle relaxers until a successful medication is found. Medications may be changed throughout treatment if new symptoms develop. Other common treatments include: Botulinum toxin and surgery.
Life Expectancy
Torsion Dystonia does not limit lifespan. The symptoms will continue throughout life and may pose a great deal of pain, but none of the symptoms associated with the disease are life-threatening. Doctors hope to find the cause of Torsion Dystonia so preventative treatments can be developed. Until then, patients must seek medical attention to control muscle spasms and pain.
Who is at Risk?
The Ashkenazi Jewish population carries the highest risk of Torsion Dystonia. People of Ashkenazi Jewish decent are up to 10 times more likely to suffer from the condition. Only one parent needs to carry the gene for Torsion Dystonia to affect children. About 40% of people carrying the gene will develop symptoms. This means children can receive the gene from a parent and never develop symptoms. Researchers and geneticists believe there are other contributing factors that control the development of Torsion Dystonia.
Symptoms
Muscle contractions are the only symptom of Torsion Dystonia. Contractions may start in one area of the body and progress to other areas. For instance, patients may present with uncontrollable muscle contractions in the right leg. Eventually the muscle contractions move to the left leg then the right arm, left arm, neck and so on until the patient is confined to a wheelchair.
Complications
Loss of muscle control is the main complication of Torsion Dystonia. Patients will eventually end up in a wheelchair due to pain and lack of muscle control.
Diagnosis
Patients are diagnosed based on family history and symptoms.
Treatment
Treatment for Torsion Dystonia is based on symptoms and severity. Some cases of the disease do not progress over time, so patients have only minimal symptoms that tend to be more pronounced when they are fatigued or stressed. In other cases, symptoms are progressive and cause unrelenting muscle spasms. In these cases, patients are treated for muscle spasms and may be given pain medications to reduce pain.
There is a long list of muscle relaxants available to patients. Depending on the case and underlying conditions, doctors typically cycle through available muscle relaxers until a successful medication is found. Medications may be changed throughout treatment if new symptoms develop. Other common treatments include: Botulinum toxin and surgery.
Life Expectancy
Torsion Dystonia does not limit lifespan. The symptoms will continue throughout life and may pose a great deal of pain, but none of the symptoms associated with the disease are life-threatening. Doctors hope to find the cause of Torsion Dystonia so preventative treatments can be developed. Until then, patients must seek medical attention to control muscle spasms and pain.
