Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body. Dystonia affects about 1% of the population, and women are more prone to it than men.
Dystonia is a disorder of muscle control; it can cause slow repetitive movements, abnormal postures and/or tremors of the musculature that are uncontrollable by the patient.
The symptoms of dystonia may include foot cramps, turning or dragging of the foot, worsening of handwriting, neck movements, rapid eye blinking or closing, various muscle tremors and sometimes difficulty with speaking; the symptoms may become more noticeable when the individual is tired or under stress.
The cause of dystonia is not known; researchers suspect that damage to the brain's basal ganglia or other regions that control movement and/or the brain's neurotransmitters; researchers divide dystonia into three groups - idiopathic, genetic and acquired.
Symptoms of dystonia can occur at any age but are often described as either childhood or early onset versus adult-onset with early onset beginning with symptoms in the limbs while adult onset usually begins in the neck and/or face; these symptoms often progress from intermittent to more frequent or fixed postures that can result in shortening of tendons.
Dystonia may be classified based on the regions of the body which are affected; in addition, they can be described as focal (localized to a specific area such as the neck) or as genetic forms that may start as focal then progress to other areas.
Currently, there are no medications to prevent or slow the progression of any dystonia; however, there are several drugs that can reduce the symptoms of dystonia (botulinum toxin, anticholinergic agents, benzodiazepines and dopaminergic agents) and other methods such as deep brain stimulation and/or physical therapy.
Researchers are still investigating what causes dystonia and are exploring ways to better treat dystonia with medications and/or surgery; genetic studies are ongoing to help understand the cause and provide ways to better treat genetically caused dystonia.
There are several different forms of dystonia. Some of the more common focal forms are:
Cervical dystonia, also called spasmodic torticollis or torticollis, is the most common of the focal dystonias. In cervical dystonia, the muscles in the neck that control the position of the head are affected, causing the head to turn to one side or be pulled forward or backward. Sometimes the shoulder is pulled up. Cervical dystonia can occur at any age, although most individuals first experience symptoms in middle age. It often begins slowly and usually reaches a plateau over a few months or years. About 10 percent of those with torticollis may experience a spontaneous remission, but unfortunately the remission may not be lasting.
Blepharospasm, the second most common focal dystonia, is the involuntary, forcible contraction of the muscles controlling eye blinks. The first symptoms may be increased blinking, and usually both eyes are affected. Spasms may cause the eyelids to close completely, causing "functional blindness" even though the eyes are healthy and vision is normal.
Cranio-facial dystonia is a term used to describe dystonia that affects the muscles of the head, face, and neck (such as blepharospasm). The term Meige syndrome is sometimes applied to cranio-facial dystonia accompanied by blepharospasm. Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. This dystonia may cause difficulties with opening and closing the jaw, and speech and swallowing can be affected. Spasmodic dysphonia, also called laryngeal dystonia, involves the muscles that control the vocal cords, resulting in strained or breathy speech.
Task-specific dystonias are focal dystonias that tend to occur only when undertaking a particular repetitive activity. Examples include writer's cramp that affects the muscles of the hand and sometimes the forearm, and only occurs during handwriting. Similar focal dystonias have also been called typist's cramp, pianist's cramp, and musician's cramp. Musician's dystonia is a term used to classify focal dystonias affecting musicians, specifically their ability to play an instrument or to perform. It can involve the hand in keyboard or string players, the mouth and lips in wind players, or the voice in singers.
The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonic motions may lead to permanent physical deformities by causing tendons to shorten.
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