Dystonia (cont.)
How are the dystonias classified?
One way to classify the dystonias is according to the parts of the body they affect:
- Generalized dystonia affects most or all of the body.
- Focal dystonia is localized to a specific part of the body.
- Multifocal dystonia involves two or more unrelated body parts.
- Segmental dystonia affects two or more adjacent parts of the body.
- Hemidystonia involves the arm and leg on the same side of the body.
Some patterns of dystonia are defined as specific syndromes:
Torsion dystonia, previously called dystonia musculorum deformans or DMD, is a rare, generalized dystonia that may be inherited, usually begins in childhood, and becomes progressively worse. It can leave individuals seriously disabled and confined to a wheelchair. Genetic studies have revealed an underlying cause in many patients - a mutation in a gene named DYT1. And it has been discovered that this gene is related not only to generalized dystonia, but also to some forms of focal dystonia. Note, however, that most dystonia, of any type, is not due to this gene and has an unknown cause.
Cervical dystonia, also called spasmodic torticollis, or torticollis, is the most common of the focal dystonias. In torticollis, the muscles in the neck that control the position of the head are affected, causing the head to twist and turn to one side. In addition, the head may be pulled forward or backward. Torticollis can occur at any age, although most individuals first experience symptoms in middle age. It often begins slowly and usually reaches a plateau. About 10 to 20 percent of those with torticollis experience a spontaneous remission, but unfortunately the remission may not be lasting.
Blepharospasm, the second most common focal dystonia, is the involuntary, forcible closure of the eyelids. The first symptoms may be uncontrollable blinking. Only one eye may be affected initially, but eventually both eyes are usually involved. The spasms may leave the eyelids completely closed causing functional blindness even though the eyes and vision are normal.
Cranial dystonia is a term used to describe dystonia that affects the muscles of the head, face, and neck. Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. The jaw may be pulled either open or shut, and speech and swallowing can be difficult. Spasmodic dysphonia involves the muscles of the throat that control speech. Also called spastic dysphonia or laryngeal dystonia, it causes strained and difficult speaking or breathy and effortful speech. Meige's syndrome is the combination of blepharospasm and oromandibular dystonia and sometimes spasmodic dysphonia. Spasmodic torticollis can be classified as a type of cranial dystonia.
Writer's cramp is a dystonia 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.
Dopa-responsive dystonia (DRD), of which Segawa's dystonia is an important variant, is a condition successfully treated with drugs. Typically, DRD begins in childhood or adolescence with progressive difficulty in walking and, in some cases, spasticity. In Segawa's dystonia, the symptoms fluctuate during the day from relative mobility in the morning to increasingly worse disability in the afternoon and evening as well as after exercise. The diagnosis of DRD may be missed since it mimics many of the symptoms of cerebral palsy.
Next: What do scientists know about the dystonias? »
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