Dystonia is an unusual illness that involves involuntary spasms and muscle contractions, causing twisting and repetitive movements or abnormal postures.
These spasms may affect only one muscle, a group of muscles or the entire body. They result from abnormalities in the basel ganglia in the brain. Similar excess movements may be experienced by people with Parkinson’s disease as well.
About 300,000 people are estimated to have dystonia, although many of them are estimated to be incorrectly diagnosed because of the similarities to other conditions like muscular dystrophy, Huntington disease and amyotrophic lateral sclerosis (ALS).
They are usually classified by the location in the body.
Symptoms may appear between the ages of 5 and 16 or may not appear until early adulthood. Secondary dystonias due to injury or stroke can appear at any time.
Symptoms can begin with deterioration in handwriting, foot cramps and a tendency to pull or drag one foot after walking or running or to turn the neck. Symptoms also include tremor and voice or speech problems.
At first the symptoms may be mild and occur only after fatigue, stress or exertion. They can be intermittent or can even plateau, depending on the type of dystonia.
The most common type of dystonia is cervical dystonia, or torticollis, in which the muscles of the head and neck develop sustained contractions that commonly result in twisting of the neck. Patients complain of pain, fatigue and soreness in the muscles and may end up in severely distorted postures. In other patients, the neck movements are more spasmodic.
Medication is often prescribed to help restore the proper balance of chemicals in the body in people who have movement disorders.
The main goal of treatment is to keep movements as normal as possible with the smallest amount of medication, since many medications can cause side effects.
Cases that do not respond to medication may require surgery, often aimed at interrupting abnormal movements. Various available procedures may be used during surgery to optimize the benefit as different targets are tested.
One procedure is pallidotomy, a computer-assisted neurosurgery, aimed at reducing tremor, rigidity and other symptoms by destroying the areas of the brain that caused these symptoms.
Another option is thalamotomy, which involves making a lesion in the thalamus, the area of the brain that is the source of tremor. Both procedures are irreversible and may have permanent side effects.
In 1997, stereotactic insertion of a deep brain stimulator into the thalmus was introduced as a procedure for treating Parkinson’s disease and essential tremor. The advantage of this type of operation is that instead of destroying overactive cells that cause the symptoms, it temporarily disables them by firing rapid pulses of electricity between 4 electrodes at the tip of the lead.
The lead is permanently implanted and connected to a pacemaker controller installed beneath the skin of the chest.
An alternative to making a lesion with an electrode is to use highly focused radiation.
Two types of devices can be used to deliver stereotactic radiosurgery, namely the Gamma Knife® and the LINAC-Scalpel. Lesioning procedures tend to be preferred for younger patients because it eliminates the need for numerous battery changes or hardware in the body. Also, brains of younger people seem to have more plasticity and less chance of a new neurologic deficit.
With tardive dyskinesia, the first step of treatment may be to discontinue or alter the neuroleptic drug.
In the cases of dystonia and dyskinesia, other treatments such as injections of botulinum toxin may be the most desirable therapy. The drug weakens certain muscles and lasts several months.
Therapies may be necessary to help patients with language and movement.
Research of Movement Disorders
Research aimed at finding the sources of movement disorders and improved treatments and therapies fall into many categories.
One method under investigation includes fetal cell transplants to reconstitute damaged pathways.
Deep brain stimulators are under investigation for control of these movement disorders and for other conditions, such as multiple sclerosis, severe stroke or brain injury.
In addition, gene studies continue to help with the diagnosis and treatment of all movement disorders.
Also, drugs that greatly reduce the risk of movement disorders such as tardive dyskinesia, acute dystonia or drug-induced Parkinsonism are being used and studied.
Wake Forest Baptist Approach
The treatment of movement disorders at Wake Forest Baptist Medical Center is a collaborative effort between the Departments of Neurology and Neurosurgery.
Quality of life is further enhanced by the participation of physical, occupational and speech therapists and members of the Otolaryngology Department, who have special expertise in speech and swallowing difficulties.
Surgical treatments including pallidotomy, thalamotomy and thalamic or subthalamic deep brain stimulators are a special area of expertise of the Movement Disorders Unit.
Advanced image-guidance combining magnetic resonance imaging (MRI), computed tomography (CT) and microelectrode recording are available to optimize these procedures. Members of the unit also have expertise in botulinum toxin injections to treat movement disorders.
Gamma Knife Center is used to treat tremor, dyskinesia and Parkinson’s disease, as well as for research. The Gamma Knife is a type of stereotactic radiosurgery in which radiation is used with pinpoint accuracy.
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