Torsion dystonia is a medical condition that is related to the involuntary muscle contractions occurring within the body. The following HealthHearty article provides information on the symptoms and treatment of this condition.
Early-onset torsion dystonia is a rare genetic condition which commonly affects children in the age group of 11 to 12 years. This disease is characterized by involuntary muscle contractions and spasms, and can lead to abnormal movement and body distortions. It may affect one body part like an arm or leg. Gradually, within 5 years, the symptoms spread to the rest of the body. It is more common in Ashkenazi Jews than the non-Jews. It has also been found that patients with genetic torsion dystonia have an average IQ of about 122.
Causes
This condition is caused due to a defect in a protein called Torsin A. In such a case, the defective protein causes problems in the neurons that are responsible for muscle control. The mutation in the DYT1 gene could occur sporadically. In some cases, it might be inherited from either of the parents.
Symptoms
Symptoms begin to occur between the age of 5 to 16 years. It is more commonly observed in children belonging to the age group of 11 to 12 years. The symptoms occur in the foot or hand, gradually progressing to the torso and limbs. In some children, the symptoms are seen in late adolescent or early adulthood years. These affect the upper body part and mostly remain as focal dystonia or segmental dystonia.
The symptoms of idiopathic torsion dystonia usually begin around the age of 12 years. It begins in one part of the body and gradually begins to spread to other parts over a period of 5 years. These children cannot perform simple motor tasks and are usually confined to a wheelchair. Other idiopathic symptoms include:
- Involuntary twisting of hands
- Tremor of hands, feet, arms, and legs
- Head jerks
- The head keeps shifting or turning in different directions
- Neck pain
- Pigeon toes
- The child suffers from involuntary twisting of the mouth
- Excessive blinking
- Involuntary popping and twisting of tongue
- Stuttering or difficulty speaking due to dystonia of vocal cords
- Difficulty writing and walking due to muscle cramps
Treatment
There is no specific treatment. However, various therapies can help in reducing the symptoms. There are many medications that help in correcting the imbalance of the neurotransmitters. These medications include dopaminergic agents, baclofen, anticholinergics, tetrabenazine, benzodiazepines, etc. Physical therapy is a must for all patients to help get more control over the affected muscles. Symptoms can also be controlled using botulinum toxin. In some cases, surgery is carried out according to the type of dystonia.
Other Types of Dystonia
Dystonia is classified on the basis of the affected body part, into the following types:
Cervical dystonia, which is also called spasmodic torticollis, affects the head, neck, and spine of the patient. This causes the head to twist and turn to one side.
Blepharospasm is characterized by involuntary contractions of the eyelids that cause the eyes to remain closed for a really long time. This makes it difficult for the patient to see, thereby leading to vision problems.
Oromandibular dystonia affects the jaw, lips, and the tongue. The affected person finds it difficult to eat, drink, and swallow. The patient suffers from either an open or closed jaw for long periods of time.
Spasmodic dystonia affects the vocal cords of the person. This leads to problems with speech, with the person’s voice sounding strained or strangled. This may cause the affected person to hesitate while speaking.
Writer’s cramp affects the muscles of the hand and forearm. It affects the fine motor hand functions after writing a few lines or sentences.
Orofacial-buccal dystonia occurs as a combination of blepharospasm and oromandibular dystonia. It is also called Meige’s or Brueghal’s syndrome.
Disclaimer: The information provided in this article is solely for educating the reader. It is not intended to be a substitute for the advice of a medical expert.
