Dystonia

The blinking of our eyes and the contraction and expansion of our lungs are all involuntary movements, controlled by our brain, often without us even thinking about them. According to the Dystonia Medical Research Foundation (DMRF), the movements associated with dystonia are also involuntary. However, they are unwanted and at times can be painful. Scientists suspect dystonia occurs when the basal ganglia, deep within the brain, doesn't function correctly. (Read about "The Brain") Dystonia can affect a single muscle or a whole group of them, but DMRF stresses that people with dystonia have normal use of all of their senses as well as normal mental skills and physical strength. The disorder affects all races and ethnic groups. According to DMRF, it affects more than 300,000 people in North America, making it the third most common movement disorder after Parkinson's disease (Read about "Parkinson's Disease") and tremor. Dystonia can be treated and is not fatal.

Types

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
• 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. (Read about "Blepharospasm")
• 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.

Symptoms

Dystonia doesn't just come along overnight. According to DMRF, 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 according to DMRF 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. (Read about "Stress") 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

According to DMRF, 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. (Read about "Genetics")

The secondary forms of dystonia, according to DMRF, can arise because of a number of different issues including:

• birth injury
• trauma
• toxins
• stroke (Read about "Stroke")
• other disorders like Wilson's disease

While some forms of dystonia are known to be genetic, the role of environmental factors contributing or causing the disorder is being investigated. DMRF says 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 age.

Diagnosis

DMRF says there is no test that can diagnose dystonia. Instead, the diagnosis comes from a physical and neurological examination. Physicians need to recognize the physical signs and be aware of the symptoms. According to DMRF, an MRI (Read about "MRI - Magnetic Resonance Imaging") from someone with dystonia is usually normal unless the dystonia is the result of some other problem. Blood tests and electrophysiology are also usually normal.

Treatment

There is no cure right now for dystonia, but there are treatments and a variety of therapies that physicians can use to ease the spasms and the pain. According to NINDS, there are several classes of medications that may help correct imbalances in neurotransmitters in the brain. NINDS also reports that botulism toxin, better known as botox, can be injected into affected muscles to provide temporary relief. Surgery may be recommended for some patients after all other options have been investigated and ruled out. (Read about "Neurosurgery") Depending on the scope of the disorder, some patients may be helped with speech therapy, physical therapy (Read about "Rehabilitation") and biofeedback (Read about "Complementary & Alternative Medicine Therapies"), according to NINDS. The best bet for anyone with dystonia is individualized treatment. It's important to find a physician who specializes in this disorder. Scientists continue to search for the gene or genes responsible for some forms of inherited dystonia. Their goal is to find the cause, so that dystonia can be prevented, and people living with the disorder today can be treated, and cured