DYSTONIA
Dystonia is a movement disorder characterized by involuntary muscle contractions, resulting in abnormal, often repetitive twisting movements, postures, or both.
- Dystonia can affect any part of the body including the neck, face, vocal cords, eyelids, or the arms and legs.
- For some, one part of the body may be affected (focal dystonia). Two or more segmented parts may also be affected in some people (segmental dystonia). While in some people, all parts of the body may be affected, especially the legs and backs (general dystonia).
- Dystonia affects both adult and children.
Some common dystonias are:
- Animus affecting the muscles of the rectum, causing painful defecation.
- Oculogyric crisis affecting the muscle of the eye and head.
- Blepharospasm affecting the muscles around the eye, resulting in rapid blinking of the eyes.
- Spasmodic dysphonia affecting the muscles of the larynx, causing the voice to sound broken, or harsh.
- Cervical dystonia affecting the muscles of the neck, causing the neck to rotate to one side, to pull close to the chest, or the back, or a combination of these postures.
- Writer’s cramp that only occurs only while writing
- Oromandibular dystonia affecting the muscle of the jaw or mouth, causing distortion of the mouth and tongue.
There are certain dystonia-related complications, and they are dependent on the type of dystonia experienced, they include:
- Pain and fatigue due to recurrent muscle contraction
- Depression, anxiety, and social withdrawal that may affect the quality of life.
- Difficulty with speech and swallowing
- Physical disabilities that affect performing normal everyday tasks.
CAUSES
The exact cause of dystonia is not known. It seems to be a neurological disorder. It is related to a problem in the basal ganglia, the part of the brain that is responsible for creating muscle contractions. The problem may involve altered-nerve cell communication in several areas of the brain. This type is known as primary dystonia.
Some form of dystonia is inherited.
Secondary dystonia is usually caused by a combination of various conditions and diseases, such as:
- Birth injury
- Brain tumor
- Traumatic brain injury
- Parkinson’s disease
- Heavy metal or carbon monoxide poisoning
- Oxygen deprivation
- Multiple sclerosis
- Stroke
- Certain infections, like HIV, encephalitis, tuberculosis
SYMPTOMS
- Speech difficulties
- Uncontrollable blinking
- Involuntary pulling of the neck
- Cramping of the foot
- Shortness of breath
- Breathing difficulties
- Muscle spasm
Symptoms may vary depending on the part of the body involved.
DIAGNOSIS AND TREATMENT
To make a diagnosis, the doctor will review your medical and family history.
The doctor may carry out the following tests to determine if underlying conditions are causing your symptoms and to determine the type of dystonia you have.
Blood and urine tests to check for toxins and infections, and check organ functions.
MRI or CT scan to show abnormalities in your brains such as a tumor, or evidence of stroke.
Genetic tests to check for mutations in your genes and rule out conditions like Huntington’s disease.
Electromyography to measure the electrical activities in your muscles.
TREATMENT
Treatment options aim at managing muscle contractions. To do this the doctor might recommend a combination of therapy, medication and even sometimes surgery.
Medications including:
- Botulinum toxin (Botox) injection
- Levodopa
- Muscle relaxants such as diazepam
- Tetrabenazine
Therapy including physical therapy, speech therapy, stretching or massage.
Surgery such as selective denervation surgery – where the nerves that control muscle spasms are cut, or deep brain stimulation – where electrodes are implanted into a specific part of your brain (the globus pallidus, a part of the basal ganglia) and a pulse generator that helps send electrical pulses is implanted under your skin, usually in the chest or upper abdomen. The pulse generator is connected to the electrodes. The pulse generator emits signals to globus pallidus to block the abnormal nerve impulses created by the basal ganglia. Surgery is usually recommended for people with severe symptoms.