Care4Dystonia, Inc.

What Is Dystonia?

Dystonia is a neurological disorder characterized by over-activity of a specific group of muscles and/or muscle. It is the over-activity of these specific muscles that causes involuntary movements and tremors, sustained muscle contractions, and abnormal postures.

How is Dystonia Misdiagnosed?

Dystonia is misdiagnosed 90% of the time by clinicians. The involuntary movements and spasms caused by dystonia sometimes are attributed to stress, stiff neck, dry eyes, tics, or psychogenic disorders. A significant clue to dystonia lies in the fact that dystonia often increases during activity, stress and anxiety; but diminishes during relaxation and sleep. The disorder is touched upon in medical school but not really emphasized.

How Often Does Dystonia Occur?

It is estimated that 550,000 people have some form of dystonia in North America alone. However, this value does not take into account that dystonia can coincide with other medical conditions such as Parkinson’s disease, Essential Tremor, Multiple Sclerosis, Cerebral Palsy, or Wilson’s disease, among others. The actual number of people identified with dystonia may be over a MILLION, but current funding has not adequately included research that determines the actual epidemiology of dystonia.

Who Can “Get” Dystonia?

Anyone can develop signs and symptoms of the disorder. No one is immune to this disorder.

Download: 2004 Dystonia Statistics

Symptoms of Dystonia

Dystonia doesn’t just come along overnight. It develops gradually. On rare occasions, dystonia may come on suddenly, but such reactions are more likely related to the taking of antipsychotic drugs by the patient. Early symptoms may include some of the following:

blinking
sensitivity to light
eye irritation
subtle facial or jaw spasms
difficulty chewing
changes in pitch of speech
mild jerky head movements
stiff neck or neck discomfort
cramping of hands during writing
cramping of legs

According to NINDS, the initial symptoms may be very mild and only noticeable after prolonged exertion, stress or fatigue. More debilitating symptoms may follow, becoming more widespread and painful. Progressive symptoms may include:

heavy blinking to the extent of functional blindness
twitching
twisting, turning, and pulling of the head known as torticollis
speech and swallowing difficulties
pain in the hand referred to as writer’s cramp
difficulty walking
spasticity

Causes of Dystonia

The onset of dystonia can be brought on in two different ways. Primary dystonia is believed to come from the abnormal function deep within the brain in a region called the basal ganglia. The basal ganglia control movement. When something goes wrong in the basal ganglia, dystonia may arise. Genetic research, according to NINDS, has revealed a possible gene mutation that causes some forms of dystonia. The secondary forms of dystonia can arise because of a number of different issues including:

birth injury
trauma
toxins
stroke
other disorders like Wilson’s disease
medications

While some forms of dystonia are known to be genetic, the role of environmental factors contributing or causing the disorder is being investigated. Some people who inherit a specific gene may develop a severe form of dystonia while others may demonstrate a very mild form of the condition. However, the specific nature of how the environment affects dystonia is unknown. NINDS says that dystonia can occur at any age depending on the form of the disorder. Some forms show up in early childhood, others in adolescence and middle and late age.

Gene Information : Dystonia Clinic website at: http://www.massgeneral.org/neurology/movement_disorders/dystonia/index.html

Forms of Dystonia

The sustained muscle contractions of people with dystonia can cause twisting, repetitive movements and even unusual postures. According to the National Institute of Neurological Disorders and Stroke (NINDS), muscles in the arms, legs, neck or the entire body can be affected. Classifying dystonia is related to the part of the body affected. NINDS lists five different classifications. They are:

generalized dystonia; affecting most or all of the body
focal dystonia; affecting a specific part of the body
multifocal dystonia; affecting two or more unrelated body parts
segmental dystonia; affecting two or more adjacent parts of the body
hemidystonia; affecting the arm and leg on the same side of the body

Some of the more common focal dystonias have their own names. They include:

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, or backwards and forward.
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.
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.

Useful Downloads

Demystifying Dystonia: Your complete guide to information about dystonia, diagnosis, current treatments, resource listings with contact info including telephone numbers and addresses, and much more. (Download: PDF)

Dystonia, New England Journal of Medicine: The following file may sound a bit complicated from a medical standpoint, but it clearly describes the most recent views about dystonia in today’s current medical literature. (Download: PDF)

New Info Cause- New Theory about Dystonia (2007)

Early symptoms may include loss of precision muscle coordination (sometimes first manifested in declining penmanship, frequent small injuries to the hands, dropped items and a noticeable increase in dropped or chipped dishes), cramping pain with sustained use and trembling. Significant muscle pain and cramping may result from very minor exertions like holding a book and turning pages. It may become difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome. Affected persons may notice trembling in the diaphragm while breathing, the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain. Trembling in the jaw may be felt and heard while lying down and the constant movement to avoid pain may result in TMJ-like symptoms and the grinding and wearing down of teeth. The voice may crack frequently or become harsh triggering frequent throat clearing and swallowing can become difficult and accompanied by painful cramping.

Electrical sensors (EMG) inserted into affected muscle groups, while painful, can provide a definitive diagnosis by showing pulsating nerve signals being transmitted to the muscles even when they are at rest. The brain appears to signal portions of fibers within the affected muscle groups at a firing speed of about 10 Hz causing them to pulsate, tremble and contort. When called upon to perform an intentional activity, the muscles fatigue very quickly and some portions of the muscle groups do not respond (causing weakness) while other portions over-respond or become rigid (causing micro-tears under load). The symptoms worsen significantly with use, especially in the case of focal dystonia, and a “mirror effect” is often observed in other body parts: use of the right hand may cause pain and cramping in that hand as well as in the other hand and legs that were not being used. Stress, anxiety, lack of sleep, sustained use and cold temperatures can worsen symptoms.