In General Knowledge for the Family, Physical & Mental Health

Dystonia: Causes, Symptoms and Treatments

What is Dystonia?

According to the Dystonia Medical Research Foundation, dystonia can be a difficult disorder to understand. This is because dystonia can be a symptom of several diseases or conditions. As such, it can be hard to categorize correctly.

This disorder affects the muscles, causing them to contract in slow repeating patterns. It can also cause muscles to contract in a way that forces sufferers into postures that are odd or abnormal. Dystonia can affect a single muscle, a group of muscles or muscles that are found throughout the body. Because the disorder affects the muscles specifically, the disorder is classified according to the way the muscles are affected.

Dystonia Symptoms

The onset of symptoms for this disorder can occur in one or several different parts of the body at the same time. They have been documented as starting out as a mild cramp in the foot, or a tendency to write more sloppily after writing a few lines. Symptoms have also been documented as a tendency to drag a foot or have one turn inward. They have also been noted to start after running or walking or even just randomly. The neck is another area that has been documented as having symptoms in the onset of the disorder. The neck muscles may begin to pull or turn, especially if the person is in a stressful situation or if he or she is tired. Any of these symptoms can seem like mild muscle spasms and can be overlooked, initially. They are most noticeable after prolonged periods of stress or physical and mental exertion. While it does not always occur, depression can also accompany the onset of dystonia.

Doctors look at the area of the body that is afflicted in order to diagnose the type of dystonia. Since the area of the body affected by symptoms is so important, it is necessary to pay close attention to the specific areas that are afflicted.

In order to better understand and treat dystonia, the disorder has been classified into sub-groups. These classifications can include:

  • Focal dystonia, for symptoms that only affect one specific area of the body
  • Segmental dystonia, if the symptoms affect two or more connected parts of the body, such as the hand and arm, or hand, arm and shoulder
  • Multifocal, if there are two or more affected parts that are not attached, such as the hand and the leg
  • Generalized dystonia, if large areas of the body are affected at the same time, such as the trunk and limbs
  • Hemidystonia, if one side of the body is affected
  • Axial, if the disorder only affects the torso

Other classifications for dystonia symptoms can include:

  • Task-Specific: for symptoms that only occur while the individual is performing certain tasks or specific movements, such as movements that involve the hands, mouth or fingers
  • Paroxysmal and Dyskinesias: used to describe the symptoms that only last for minutes or hours
  • Torsion: a term that references the symptoms of dystonia in which the muscles contract against themselves. This classification is usually used in conjunction with axial, generalized or segmental classifications of dystonia.

Dystonia is also classified by using the age when the symptoms first began, such as early-onset dystonia for children, adolescent-onset for teenagers and adult or late-onset dystonia for those over the age of 30.

What is Cervical Dystonia?

There are two common forms of focal dystonia: Cervical dystonia and Blepharospasmis. Cervical dystonia, also called spasmodic torticollis, is the most common form and involves the neck muscles of the sufferer. In this form of dystonia, the person’s neck muscles turn to one side or pull forward or backward. This can include the muscles in the neck, also. An estimated 10 percent of those diagnosed with this form of dystonia have been seen to have their symptoms go into remission. This remission may or may not last. Symptoms for cervical dystonia reach a peak over the course of months or years.

Blepharospasm, the second most common focal form, affects the muscles in the eyes that are responsible for blinking. The early symptoms of this condition include increased blinking in one and then both eyes. As the condition progresses, the eye lids can shut completely, leaving the person unable to see.

Another form of dystonia is Cranio-facial dystonia, or Meige syndrome, if the sufferer has Cranio-facial dystonia in combination with blepharospasm. This form affects the neck, face and head. Spasmodic dysphonia is another form, affecting the vocal cords. It is also called laryngeal dystonia. Oromandibular dystonia pertains to the muscles affecting the tongue, jaw and lips.

Dopa Responsive Dystonia

This category of dystonia gets its name because of its responsive nature to a medication called L-Dopa. This form of dystonia usually manifests in childhood, as early as the age of six, centering on the feet and lower limbs. Over time, the condition can spread to the upper limbs, eventually spreading throughout the entire body by the teenage years. These symptoms can persist and worsen until the individual is in his or her 30s. However, it will stabilize afterwards. This form of dystonia can be inherited.

Dystonia Causes

No one is certain of what causes dystonia. It is believed that dystonia can result from some abnormality of or trauma done to the basal ganglia and other parts of the brain that control movement. There is also speculation on whether this disorder can be caused by interference in the communications of brain cells, or by some defect in the brain’s neurotransmitters, which help the brain cells to communicate. Researchers have also listed defects in the brain’s ability to process information and command the body to move. Although there is speculation, to date, there are no common abnormalities identified amongst dystonia patients.

Because of the speculation and inconsistencies in common abnormalities, researchers have further categorized dystonia into three groups of causation: genetic, idiopathic and acquired. Genetic causes are traced back to a gene found in dystonia sufferers. This gene can be passed down from parent to child. However, the presence of the gene is not a sure indicator that the child will develop the disorder. Other factors, such as environmental or genetic, can help prevent families from passing the gene to the next generation. Some family members may have more severe symptoms than others. This can also relate directly to environment and genetics.

Idiopathic dystonia is the term used to refer to cases where no cause can be found. This is a very common form of the condition.

Acquired dystonia is a form that can be traced back to causes from the environment or brain damage. This includes certain medications and injuries caused at birth. Hypoxia has been known to result in dystonia, and neonatal brain hemorrhages have been known to cause it, as well. Other causes under acquired dystonia can include exposure to heavy metals, infections, drug interactions, poisoning from carbon monoxide, stroke or other brain-related traumas.

In the event of drug-related dystonia, symptoms can be reversed if the medication is stopped soon enough. With acquired dystonia, the symptoms have been found to reach a plateau but will not spread to other parts of the body.

Dystonia Treatment

As focal forms of dystonia are the most common, there is good news for the focal form sufferer. While there are currently no known cures, botulinum toxin is a treatment that is effective. This is a chemical that is injected into muscles that are affected by the condition. It aids in the prevention of contractions and spasms. It can also aid in giving temporary reprieves from the postures that can leave sufferers in pain. Botulinum toxin was first used as a treatment for those suffering from blepharospasm but has been adopted as a treatment for other forms of focal dystonia, as well.

There are also a variety of drugs that target neurotransmitters. This can help with several different forms of dystonia but may stop working after a period of time. These drugs include, but are not limited to:

  • GABAergic agents: examples of these drugs would include lorazepam, diazepam, baclofen and clonazepam. The most common side effect for this class of drugs is drowsiness. They are used to regulate GABA, a neurotransmitter.
  • Anticholinergic agents: examples of this class of drugs would include benztropine and trihexyphenidyl. Side effects for these drugs include dry mouth, constipation and sedation qualities. They can also cause problems with memory, especially in older dystonia patients. This can limit the amount of time patients can use them.
  • Dopaminergic agents: examples of these drugs include levodopa and tetrabenazine. Side effects for this class of drugs include involuntary muscle movements and weight gain. They are used to block dopamine and its effects to reduce muscle movement. Because of the side effects, dopaminergic agents can be restricted in use in order to avoid aggravating the condition.

Other Forms of Treatment

Physical therapies are an additional treatment and may prove helpful to dystonia patients. This can also include speech therapy and voice therapy. In therapy, patients are able to learn how to manage their condition. These therapies can be aided with splints, biofeedback and stress management.

Deep Brain Stimulation: for dystonia patients that are unresponsive to drug treatments can turn to surgery for relief. Deep brain stimulation requires the implantation of tiny electrodes into the regions of the brain that control movement. Electricity is then used to block the natural electrical signals that are causing the symptoms. This treatment should only be done by neurosurgeons, neurologists, psychiatrists and other trained professionals that work as a team for the patient. These treatments are followed up intensively for adjustments to the treatment.

Other surgeries: these surgeries are targeted at interrupting the chemicals and pathways that are in the parts of the brain that are acting abnormally. These pathways and chemicals run throughout the nervous system, making it necessary for each patient to have a customized plan, based on his or her specific needs. Surgeries can serve to alter parts of the thalamus, globus pallidus and other parts of the brain. They can also serve to cut the nerves connected to nerve roots. This alters the function and behavior of the nerves, reducing symptoms.

The symptoms and treatments for dystonia can be varied and complex. A physician should be consulted if an individual develops concerns about contracting this disorder or if it is discovered that someone in the individual’s immediate family has this disorder.

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