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الأربعاء، 13 أكتوبر 2010

Frequently Asked Questions: Symptoms

How does dystonia affect the nervous system

Dystonia disrupts the nervous system’s ability to allow the brain and the muscles to communicate. The body’s ability to control muscle movements is very complicated and involves many areas in the brain. The area of the brain that is believed to be most affected by dystonia is called the basal ganglia. The basal ganglia are a deep region of the brain that monitors the speed of movement and controls unwanted movements. The basal ganglia are responsible for sending signals to the muscles instructing them when to move and when to stop moving. For reasons we don’t yet understand, the basal ganglia’s instructions to the muscles become irregular and chaotic, resulting in the unwanted muscle movements and contractions

In addition, as researchers began learning more about task-specific dystonias such as the various forms that affect musicians, it became clear that there is a sensory component to dystonia symptoms. Not only does the brain send irregular messages to the brain, but the affected muscles send chaotic messages back to the brain—the nervous system is overtaken by a self-perpetuating cycle of abnormal communication. This revelation led to a new perspective that suggested that the brain and muscles could be “retrained” to communicate through physical therapy. Rehabilitation is an active area of research that is likely to continue to provide direction for new therapies and may be particularly relevant to the treatment of secondary dystonias

Can dystonia come about overnight? Are there any warning signs

Dystonia generally develops gradually. Exceptions include rapid-onset dystonia-parkinsonism (which may develop over days or hours) and the acute dystonic reactions associated with certain antipsychotic drugs

Symptoms of dystonia may begin very mildly. Subtle facial or jaw spasms, or difficulty chewing may suggest early face or jaw dystonia. Changes in the cadence or pitch of speech may be early signs of laryngeal dystonia/spasmodic dysphonia. Mild jerky head movements, stiff neck, or local neck discomfort may occur in the early stages of cervical dystonia. Cramping or fatiguing of the hands during writing, other manual activities, or walking may suggest limb dystonia. Similarly, children who develop generalized dystonia may first complain of cramps in a leg or a foot turning in. Sometimes a focal dystonia may arise directly following injury to that body region

Sensory symptoms may precede focal dystonia in some people. Common examples would be a gritty sensation in the eye preceding blepharospasm and irritation of the throat preceding laryngeal dystonia/spasmodic dysphonia

Can dystonia affect muscles such as the heart or diaphragm, or other organs

Dystonia affects muscles that can be controlled voluntarily—mostly the skeletal muscles. Dystonia does not affect smooth muscles, such as the heart. However, dystonia can affect breathing in several ways. Severe neck dystonia can cause difficulty breathing when the upper airway is impacted. Dystonia involving the vocal cords can potentially cause shortness of breath when the vocal cords close tight, but in general the tightness is present primarily when speaking. The act of breathing involves muscles between the ribs and a large muscle called the diaphragm. Dystonia can cause stiffness in the muscles between the ribs and can cause a sensation or shortness of breath. Occasionally, the diaphragm can also be affected. Finally, when a person with dystonia has involvement of the spine, twisting of the torso can limit how much the lungs can expand when breathing, and this can potentially cause shortness of breath

The bladder is made up of smooth muscle, and therefore not affected by dystonia. However, the muscles around the opening of the bladder (the external sphincter) can very rarely become involved, resulting in difficulty of passing urine. This seems to occur most often dystonia that is a symptom of another neurological disease such as Parkinson's disease

Is dystonia fatal

In the overwhelming majority of people with dystonia, it does not shorten life expectancy or result in death. In very severe generalized dystonia that affects many body areas, there can be problems that arise secondary to the dystonia that may cause life-threatening conditions. However, these instances are quite rare and usually treatable. Dystonia does occur as a symptom of many degenerative disease, some of which do impact mortality, but the dystonia itself does not shorten life span

What is a dystonic storm

Rarely, patients with dystonic symptoms develop increasingly frequent and intense episodes of severe generalized dystonia called status dystonicus. A single episode of this severe dystonia may be referred to as a “dystonic storm” or dystonic attack

Although the exact numbers are not known, anecdotal accounts suggest that relatively mild to moderate dystonic storms are a fairly regular experience for some individuals with generalized dystonia, especially secondary dystonias. Most cases of severe status dystonicus occur in persons who have generalized dystonia that is complicated by other conditions such as metabolic disease, secondary effects of a traumatic injury, or additional neurological conditions

If a person’s swallowing or breathing is affected by a dystonic storm, he/she may require emergency medical attention. In very severe cases, individuals may be admitted to an intensive care unit setting where they may be sedated with medication or need temporary mechanical ventilation to support breathing

Although the exact origins of status dystonicus are not known, some documented cases appear to be triggered by an abrupt change in medication or severe infections. Medications and botulinum toxin may be used to reduce or alleviate symptoms of a severe dystonic storm. Individuals experiencing a relatively mild or moderate dystonic storm may have a specific medication prescribed by a physician to take at the onset of the attack, may get some relief from a “sensory trick,” or may simply wait for the symptoms to subside

Is there a correlation between dystonia and fatigue

The constant movement and muscle contractions of dystonia can be compared to working out approximately 18 hours a day—and for people whose symptoms don't stop during sleep, 24 hours a day. This can definitely result in fatigue and diminished stamina. Fatigue may be confused with lack of energy or motivation which may be a sign of depression or other medical conditions. Adequate rest and supplementing sleep with restorative practices such as meditation or relaxation techniques are a mainstay of coping with fatigue for many people

Can dystonia cause difficulty swallowing or breathing

Yes, sometimes. This depends primarily on the part(s) of the body affected. For instance, some people with dystonia involving the jaw or tongue may have chewing or swallowing difficulty. Occasionally, people with very severe cervical dystonia also may have some swallowing difficulty. Treatments, whether medications or botulinum toxin injections, can also potentially have swallowing side effects. Dystonia rarely affects breathing. Severe generalized dystonia may involve the diaphragm muscles (the primary breathing muscles) or cause enough truncal twisting to cause some problems with regular breathing

Is there anything helpful that can be done to ease my dystonia in a stressful situation

Although clearly stress does not cause dystonia, many people with dystonia have reported that their symptoms worsen in stressful situations. This worsening is temporary and resolves when the stressful situation has passed. Unfortunately, getting rid of all stress in life is not possible. Therefore, techniques which result in a lessening of the stressful feelings may be beneficial. Relaxation techniques can be of considerable help. Although there are medications which can decrease anxiety, the effects of stress are best managed without additional medications. Health-care professionals familiar with the techniques of stress reduction may be very helpful