Topic: The DYT1 gene regarding dystonia
Word Count – 500W
DYT1 Dystonia – What It Is and How to Treat This Disease?
So, what is early-onset torsion dystonia? Well, it’s a movement disorder that usually occurs in childhood or adolescence. As per researches, the DYT1 gene on chromosome 9q34 is responsible for this serious disease. Irregular tremor of arms or legs is one of the common signs of dystonic muscle contractions.
Patients who experience dystonic muscle contractions usually find problems while doing specific tasks like walking, writing, etc. However, with time, the constructions become more evident with other actions which are less specific. This is how this disease becomes more severe.
Check out the below section to know more about dystonia disease, its causes, symptoms, treatments, and more.
Symptoms of Dystonia
Patients who are diagnosed with this disease may have mild or severe symptoms. Several body parts can be affected because of this disease. Here are some early symptoms one needs to look for:
- Pulling of neck
- Dragging leg
- Uncontrollable and frequent blinking
- Cramping of foot
- Speech difficulties
Because of continuous muscle contractions, patients often have pain and feel tired.
DYT1 Dystonia Risk Factors and Diagnosis
Isolated dystonia can be diagnosed with the following:
- Isolated dystonia causes the following symptoms – patterned, twisting, and repetitive movements and postures. So, it can be diagnosed by observing these symptoms closely.
- Except for tremor, no other abnormalities will be found after neurologic examination
Having a family history of early-onset dystonia is another risk factor. This could be a sign that an individual has dystonia.
Also, these special factors determine that the patients are at high risk for DYT1 early-onset isolated dystonia:
- Onset in a single limb of the patients who are aged below 26
- Onset in two or more limbs
- Patients who have Ashkenazi Jewish ancestry
DYT1 early-onset isolated dystonia can be diagnosed properly by molecular genetic testing.
Doctors often use the following treatment options to relieve DYT1 early-onset dystonia symptoms:
Anticholinergics: One of the common examples of Anticholinergics is trihexyphenidyl. It can be prescribed to children to treat the symptoms. Doctors recommend using high doses of trihexyphenidyl for children who can tolerate high doses.
Antiepileptics, levodopa, and dopamine-depleting agents are some of the other medications.
2. Botulinum toxin Injections
Botulinum toxin injections are used to treat adult-onset focal dystonia symptoms. This injection is pushed directly into the dystonic muscles of patients with more widespread dystonia.
In case medications fail to treat dystonia, physicians recommend surgery. The surgical process enables brain stimulation of the globus pallidus internal or GPi. This treatment has been proven quite effective for patients with DYT1 early-onset dystonia.
Physical therapy or specific exercise program can also be beneficial for patients.
Are the Family Members of Patients at Risk?
Yes, since the DYT1 gene is responsible for this disease, the patients’ family members, including their parents and children, will be at risk. DYT1 dystonia occurs due to DYT1 or TOR1A gene. If you are diagnosed with DYT1 dystonia, there are chances that your parents have this disease. Also, 50% chances are there that your children inherit the TOR1A gene. The best way to diagnose this disease is to go for a molecular genetic test.
Also, other family members of the patients can be at risk if the parents of the patient have c.907_909delGAG deletion in TOR1A.
Dystonia, a movement disorder, may affect people belonging to different age groups in different ways. Symptoms can be mild or severe. Treatments like medications and surgery have been proven effective for patients. Also, deep brain stimulation is a good treatment option. If you have any dystonia symptoms, consult your doctor. Only a physician can recommend the right treatment.