Dystonia

More than 1 Million Americans
live with Parkinson's disease, and some
60,000 new cases are diagnosed each year

Dystonia affects approximately 250,000 people in the U.S., making it the third most common movement disorder, following Essential Tremor and Parkinson’s disease. In fact, dystonia may be present in people with other neurological conditions such as Parkinson’s disease, multiple sclerosis, and cerebral palsy.

This disorder is characterized by sustained muscle contractions, often causing twisting or repetitive movements and abnormal postures. Dystonia may be limited to one area (the neck, face, vocal cords, or arms and legs) or may affect the whole body. Dystonia may be both painful and debilitating.

Dystonia can be primary (not caused by something else and possibly inherited) or secondary (a result or symptom of another disorder, injury or medication).

Dystonia: Symptoms

There are many types of dystonia and the symptoms often vary according to the parts of the body affected. A brief overview follows of the various forms of dystonia and the unique symptoms associated with each:

  • Blepharospasm is marked by involuntary contraction of the muscles that control the movement of the eyelids. Symptoms may range from intermittent, painless, increased blinking to constant, painful, eye closure leading to functional blindness.
  • Cervical dystonia (CD), also known as spasmodic torticollis, is marked by muscle spasms of the head and neck may be painful and cause the neck to twist into unusual positions or postures.
  • Oromandibular and lingual dystonia are characterized by forceful contractions of the lower face causing the mouth to open or close. Chewing and unusual tongue movements may also occur.
  • Spasmodic dysphonia (SD), also known as laryngeal dystonia, affects the muscles in the larynx. SD is marked by difficulties in either opening or closing the vocal cords. This causes the voice to have either a strained, hoarse, strangled, or whispering quality.
  • Limb dystonia is characterized by involuntary contractions of one or more muscles in the arm, hand, leg, or foot. These types of focal dystonias include writer’s cramp and other occupational dystonias.
  • Segmental dystonia involves two adjacent areas of the body, such as the head and neck or the arm and trunk.
  • Multifocal dystonia involves symptoms in two areas of the body that are not next to each other, such as the two arms, or an arm and a leg.
  • Generalized dystonia symptoms begin in an arm or a leg and spread eventually to the trunk and the rest of the body. Generalized dystonias are often hereditary or drug-induced.

Dystonia: Diagnosis

Dystonia is easily misdiagnosed or confused with other diseases. Diagnosis is usually based on signs and symptoms, a physical examination, and a thorough neurological examination. Additionally, your neurologist may request magnetic resonance imaging (MRI) of the brain and possibly the spinal cord to determine of there is a structural cause.

Dystonia: Treatment

The treatment for dystonia may involve oral medications, botulinum toxin injections, and surgery. These therapies may be used alone or in combination.

Unfortunately, the use of oral drugs is based on trial-and-error methodology. Everyone reacts differently to the medications available, and there are a wide variety of pharmacological options for relieving the symptoms of dystonia. Some of the medications used to treat this disorder include:

  • Anticholinergics such as Artane (trihexyphenidyl), Cogentin (benztropine), or Parsitan (ethopropazine): These may be used to block acetylcholine. While considered highly effective treatment for dystonia, these drugs work in only a minority of patients.
  • Benzodiazepines, such as Valium (diazepam), Klonopin (clonazepam), and Ativan (lorazepam): These may be used to block the Gaba-A receptor in the central nervous system. Benzodiazepines can be effective for focal, segmental, and generalized dystonias.
  • Baclofen (Lioresal): This drug stimulates the Gaba-B receptor. Intrathecal (spinal infusion) forms of Baclofen are also available.
  • Dopamine antagonists: Sinemet (levodopa) or Parlodel (bromocriptine) increase dopamine. These drugs seem to work best on patients diagnosed with primary dystonia.
  • Dopamine depletors: Anti-psychotics such as Clozaril (clozapine), Nitoman (tetrabenazine), and Reserpine have the opposite affect and actually block or deplete dopamine.

Depending on the form of dystonia, other treatments including physical therapy and speech therapy may also prove beneficial to dystonia patients.

Surgical treatment of dystonia is usually reserved for patients in whom other forms of therapy fail.

Dystonia: Resources

Benign Essential Blepharospasm Research Foundation, Inc.
PO Box 12468
Beaumont, Texas 77726-2468
Tel: 409-832-0788
Fax: 409-832-0890
Email: bebrf@sbcglobal.net

Dystonia Medical Research Foundation
One East Wacker Drive, Suite 2430
Chicago, Illinois 60601-1905
Tel: 312-755-0198
In Canada: 800-361-8061
Fax: 312-803-0138
E-mail: dystonia@dystonia-foundation.org

National Organization for Rare Disorders
NORD Washington Office
1779 Massachusetts Avenue,
Suite 500
Washington, DC 20036
Tel:  202-588-5700
Voice Mail: 800-999-NORD (6673)
Fax: 202-588-5701
E-mail: orphan@rarediseases.org

National Spasmodic Dysphonia Association
300 Park Boulevard, Suite 415
Itasca, IL 60143
Tel: 800-795- NSDA(6732)
Fax: 630-250-4505
E-mail: NSDA@dysphonia.org

National Spasmodic Torticollis  Association
P.O. Box 5849
Orange, CA 92863-5849
Tel: (714) 516-1824 or (800) HURTFUL (487-8385)
Fax: 414-662-9887
E-mail: NSTAmail@aol.com

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