Ataxia – a degenerative disorder affecting the brain, brainstem, or spinal cord. This can result in clumsiness, inaccuracy, instability, imbalance, tremor, or a lack of coordination while performing voluntary movements. Movements are not smooth and may appear disjointed or jerky. Patients may fall down frequently due to an unsteady gait. Ataxia can also affect speech and movement of the eyes.
If a metabolic disorder can be identified as the underlying cause, specific treatment may be available in select cases. The cornerstone of treatment for ataxia of parkinsonism (or parkinsonism of any cause) is the use of oral L-DOPA. Other medications used to treat ataxia associated with parkinsonism (or parkinsonism of any cause) include anticholinergics, dopamine agonists, amantadine, selegiline, and entacapone. In children with ataxia, generally only anticholinergics are prescribed.
Dystonia – a neurological muscle disorder characterized by involuntary muscle spasms. Dystonia results from abnormal functioning of the basal ganglia, a deep part of the brain which helps control coordination of movement. These regions of the brain control the speed and fluidity of movement and prevent unwanted movements. Patients with dsytonia may experience uncontrollable twisting, repetitive movements, or abnormal postures and positions. These can affect any part of the body, including the arms, legs, trunk, eyelids and vocal cords. General dystonia involves the entire body. Focal dystonias involve only one body location, most commonly the neck (spasmodic torticollis), eyelids (blepharospasm), lower face (Meige syndrome), or hand (writer's cramp or limb dystonia). Depending on what part of the body is affected, the condition can be very disabling.
There is a three-tiered approach to treating dystonia: botulinum toxin (botox) injections, medication, and surgery. These may be used alone or in combination. Botox injections help block the communication between the nerve and the muscle and may lessen abnormal movements and postures. Surgery is considered when other treatments have proven ineffective. The goal of surgery is to interrupt the pathways responsible for the abnormal movements at various levels of the nervous system. Some operations purposely damage small regions of the thalamus (thalamotomy), globus pallidus (pallidotomy), or other deep centers in the brain. Deep brain stimulation (DBS) has been tried recently with some success. Other surgeries include cutting nerves leading to the nerve roots deep in the neck close to the spinal cord (anterior cervical rhizotomy) or removing the nerves at the point they enter the contracting muscles (selective peripheral denervation).
Essential Tremor – an uncontrolled shaking or trembling, usually of one or both hands or arms, that worsens when basic movements are attempted. Essential tremor affects about 5 million people in the United States, with a higher incidence in people age 60 and older. It is caused by abnormalities in areas of the brain that control movement and is not tied to an underlying disease (e.g., Parkinson’s disease). About 50 percent of patients have a family history of the condition. This condition usually does not result in serious complications, but it can certainly interfere with daily activities and cause distress.
In some cases, physical therapy or changes in lifestyle may improve symptoms. If the condition affects a patient’s ability to perform daily tasks and has a negative impact on quality of life, medication or surgery are considered. About 50 to 75 percent of patients taking medications have a reduction of their tremor. Beta-blockers, antiseizure medications, benzodiazepines, and carbonic anhydrase inhibitors often are prescribed. Beta-blockers are usually prescribed for younger patients because they may cause memory loss and confusion in older patients. Botox injections help block the communication between the nerve and the muscle and may lessen tremor.
If the tremor is so severe that is causes a disability, surgery may be recommended. Thalamotomy purposely destroys a portion of the area deep within the brain that receives sensory messages (thalamus). About 75 percent of patients undergoing this procedure find relief on one side of their body. Surgery on both sides of the thalamus is rarely done due to the high risk of speech loss. DBS is another surgical option in severe cases of essential tremor that have not responded to medication. A hair-thin wire is implanted in the thalamus and connected to a neurostimulator implanted under the collarbone. The neurostimulator sends electrical impulses along the wire to the thalamus, interrupting signals that cause tremor.
Huntington's disease – a progressive, degenerative, and fatal disease caused by the deterioration of certain nerve cells in the brain. Onset most often occurs between ages 35 and 50, with the condition progressing without remission over 10 to 25 years. Huntington’s disease affects an estimated one in every 10,000 people in the United States. A juvenile form of the disease affects patients age 20 and younger, accounting for about 16 percent of all cases. Symptoms include jerking; uncontrollable movements of the limbs, trunk, and face; progressive loss of mental abilities; and the development of psychiatric problems. The condition is hereditary – a child with one affected parent has a 50 percent chance of developing Huntington’s disease.
There is no cure for Huntington’s disease, so treatment focuses on reducing symptoms, preventing complications, and helping patients and family members cope with daily challenges. Doctors may prescribe antipsychotics, antidepressants, tranquilizers, mood-stabilizers, or botox injections. These are prescribed in the lowest effective dosage, as all of these medications may have side effects. Huntington’s disease usually runs its full terminal course in 10 to 30 years. Researchers have observed that the earlier in life the symptoms occur, the faster the disease often progresses.
Multiple System Atrophy – a progressive, neurodegenerative disease affecting movement, blood pressure, and other body functions. Because symptoms, onset, and severity of MSA vary from person to person, differing ranges of symptoms were designated initially as three different diseases: Shy-Drager syndrome, striatonigral degeneration, and olivopontocerebellar atrophy. All of these are now classified under MSA. Symptoms include stiffness or rigidity; freezing or slowed movements; instability; loss of balance; loss of coordination; a significant fall in blood pressure when standing, causing dizziness, lightheadedness, fainting, or blurred vision (orthostatic hypotension); male impotence; urinary difficulties; constipation; and speech and swallowing difficulties.
Medication may be prescribed to treat some of the symptoms associated with this disease. Levodopa and dopamine agonists used to treat Parkinson's disease may be effective in treating slowness and rigidity in some patients. Orthostatic hypotension can be improved by prescribing drugs that raise blood pressure. As this disease progresses, the benefits of medication lessen. In cases that have progressed and are more severe, a feeding tube may be needed when the patient cannot swallow food on his or her own.
Myoclonus – a twitching or intermittent spasm of a muscle or group of muscles. Myoclonus is classified into several major types and many subcategories. The most common type is cortical myoclonus, arising from an area of the brain known as the sensorimotor cortex. Jerky movements usually have a regular rhythm and may be limited to one muscle or muscle group (focal) or several different muscle groups (multifocal). They may occur without an obvious cause or be a result of many diseases. Some of the diseases associated with myoclonus are Celiac disease, Angelman syndrome, Huntington's disease, Rett syndrome, Creutzfeldt-Jakob disease, and Alzheimer's disease. Subcortical myoclonus usually affects many muscle groups (generalized) and may be the result of abnormally low levels of oxygen in the brain (hypoxia) or a metabolic process, such as kidney or liver failure. Spinal myoclonus is usually caused by a focal spinal lesion, such as multiple sclerosis, syringomyelia, trauma, ischemic myelopathy, or an infection such as herpes zoster, Lyme disease, E. coli, or HIV. The jerking often lasts longer and is more variable than in cortical or subcortical myoclonus and continues during sleep. The most common type of peripheral myoclonus is hemifacial spasm, which may occur for no underlying reason or may be caused by compression of the facial nerve. Movements persist during sleep and may last for only a few days or for as long as a few months. The exact type of myoclonus is delineated further by the parts of the body affected and by the underlying causes.
Myoclonus is treated through prescribing medications that may help reduce symptoms. In some cases, effective results are achieved by combining multiple drugs. Some of the medications prescribed are barbiturates, phenytoin, primidone, sodium valproate, or the tranquilizer clonazepam. All of these medications have potential side effects, so it is very important for patients to work closely with their doctor on medication management.
Parkinson's disease – a progressive disorder that is caused by degeneration of nerve cells in the part of the brain called the substantia nigra, which controls movement. These nerve cells die or become impaired, losing the ability to produce an important chemical called dopamine. Parkinson’s produces many common symptoms, including: tremor; muscle rigidity or stiffness of the limbs; gradual loss of spontaneous movement, often leading to decreased mental skill or reaction time, voice changes, or decreased facial expression; gradual loss of automatic movement, often leading to decreased blinking, decreased frequency of swallowing, and drooling; a stooped, flexed posture, with bending at the elbows, knees and hips; an unsteady walk or balance; and depression or dementia. It is estimated that 60,000 new cases of Parkinson’s disease are diagnosed each year, adding to the estimated 1 to 1.5 million Americans who currently have the disease. While the condition usually develops after the age of 55, the disease may affect people in their 30s and 40s.
Most Parkinson's patients are treated with medications to relieve the symptoms of the disease. Some common medications used are dopamine precursors, dopamine agonists, and anticholinergics. Surgery is considered when medications have proven ineffective. DBS of the subthalamic nucleus or globus pallidus can be effective in treating all of the primary motor features of Parkinson's and sometimes allows for significant decreases in medication doses. Thalamotomy can help stop tremor by placing a small lesion in a specific nucleus of the thalamus.
Progressive Supranuclear Palsy – a rare brain disorder that causes serious and permanent neurological problems. People with PSP experience a gradual loss of specific brain cells, causing slowing of movement and reduced control of walking, balance, swallowing, speech, and eye movement. Often, there are personality and cognitive changes, causing emotional outbursts and a decrease in intellectual abilities. This disease more commonly affects people ages 40 to 60 and usually runs its full terminal course in six to 10 years. It is sometimes misdiagnosed as Parkinson's disease due to the similarity in symptoms. While the cause of PSP is unknown, researchers know that a brain protein called tau accumulates in abnormal clumps in certain brain cells in people with PSP, causing the cells to die. There appears to be a genetic predisposition.
Unfortunately, there is no effective medication to treat PSP, but research is ongoing. Medications that may have a slight benefit are levodopa, amantadine, and amitriptyline. Botox injections may be used to treat the blepharospasm (involuntary eyelid closure) that occurs in some people with PSP.
Rett Syndrome – a progressive neurological disorder that causes debilitating symptoms including reduced muscle tone, autistic-like behavior, repetitive hand movements, irregular breathing, decreased ability to express feelings, developmental delays in brain and head growth, gait abnormalities, and seizures. Loss of muscle tone is usually the first symptom. About one in every 10,000 to 15,000 baby girls are diagnosed with RTT, but the prevalence may be much higher due to undiagnosed cases. RTT can affect boys, but they account for only a very small percentage of cases. RTT is caused by mutations in the gene MECP2, located on the X chromosome. Children with RTT appear to develop normally until 6 to 18 months of age, at which point symptoms start to appear. RTT leaves its victims profoundly disabled, requiring maximum assistance with all aspects of daily living.
Unfortunately, there is no cure for RTT. Treatment for the disorder focuses on the management of symptoms and requires a supportive, multidisciplinary approach. The disorder progresses through four major stages, each with characteristic symptoms and medical implications. Medication may be needed for breathing irregularities and motor difficulties. Antiepileptic drugs may be used to control seizures. Occupational therapy, education, and supportive services are geared towards helping individuals with RTT cope with daily challenges and maintain a quality of life. Although it is severely debilitating, individuals with RTT have lived to middle age, but rarely beyond age 40 to 50.
Secondary parkinsonism – a disorder with symptoms similar to Parkinson's disease, but caused by medication side effects, different neurodegenerative disorders, illness, or brain damage. As in Parkinson’s disease, many common symptoms may develop, including tremor; muscle rigidity or stiffness of the limbs; gradual loss of spontaneous movement, often leading to decreased mental skill or reaction time, voice changes, or decreased facial expression; gradual loss of automatic movement, often leading to decreased blinking, decreased frequency of swallowing, and drooling; a stooped, flexed posture with bending at the elbows, knees and hips; an unsteady walk or balance; and depression or dementia. Unlike Parkinson’s disease, the risk of developing secondary parkinsonism may be minimized by careful medication management, particularly limiting the usage of specific types of antipsychotic medications.
Many of the medications used to treat this condition have potential side effects, so it is very important to work closely with your doctor on medication management. Unfortunately, secondary parkinsonism does not seem to respond as effectively to medical therapy as Parkinson's disease.
Spasticity – increased muscle contractions causing stiffness or tightness of the muscles that may interfere with movement, speech, and walking. Spasticity is usually caused by damage to the portion of the brain or spinal cord that controls voluntary movement. It may result from spinal cord injury, multiple sclerosis, cerebral palsy, stroke, brain damage caused by a lack of oxygen, severe head injury, and metabolic diseases such as Lou Gehrig's disease.
Treatment may include medications such as baclofen, diazepam, tizanidine or clonazepam. Physical therapy with specific muscle exercises may be prescribed, in an effort to help reduce the severity of symptoms. Surgery may be recommended for tendon release or to cut the nerve-muscle pathway. The prognosis depends on the severity of the spasticity and the underlying disorder(s).
Tardive Dyskinesia – a muscle disorder that results from prolonged exposure to some types of antipsychotic and neuroleptic medications. TD is characterized by repetitive, involuntary, purposeless movements such as grimacing, lip smacking, eye blinking, or rapid leg and arm movements. The condition can be quite embarrassing because it cannot be controlled. TD may be mild and reversible in many cases. The percentage of patients who develop severe or irreversible TD is quite low in proportion to those receiving long-term antipsychotic therapy. Older adults are more susceptible to persistent and irreversible TD than younger people. New classes of antipsychotic medications have decreased the prevalence of TD considerably.
While there is no treatment for TD, the risk of developing TD may be minimized by prescribing newer classes of antipsychotics to treat psychosis, restricting the long-term use of neuroleptics to well-defined indications, and prescribing these medications in the lowest effective dosage. It is also important that patients taking these medications are frequently monitored for symptoms.
Tourette Syndrome – a hereditary, neurological disorder characterized by repeated involuntary movements and uncontrollable vocal sounds called tics. This disorder evidences itself most often between the ages of 6 and 15, but may occur as early as age 2, or as late as age 20. The first symptoms are often involuntary movements (tics), most commonly of the face, followed by the arms, legs or trunk. These tics are frequent, repetitive and quick. Verbal tics (vocalizations) usually occur with the movements; later they may replace one or more movement tics. Vocalizations include grunting, throat clearing, shouting and barking. Verbal tics may also be expressed as coprolalia (the involuntary use of obscene words or socially unacceptable words and phrases) or copropraxia (obscene gestures). It is estimated that in 70 percent of cases, the tics disappear in a person’s early 20s.
The major problem faced by people with TS is socialization and acceptance by peers because the condition can be quite embarrassing. Often, tic symptoms do not cause serious enough impairment to require medication. However, there are many types of medications prescribed for those whose symptoms interfere with functioning. Because all of these medications have potentially serious side effects, they should be prescribed in the lowest effective dosage.
Wilson’s disease – a genetic disorder that causes excessive copper accumulation in the liver or brain. Although copper accumulation begins at birth, symptoms begin appearing between the ages of 6 and 40, but most commonly in late adolescence. Wilson's disease affects an estimated one in 30,000 people worldwide. It is an autosomal recessive disease, occurring equally in males and females. In order to inherit it, both parents must carry a gene that is passed along to the child. Consequences include liver disease and psychiatric and neurological problems. Physical signs include jaundice, abdominal swelling, vomiting of blood, abdominal pain, tremor, and difficulty in walking, talking or swallowing. Psychiatric signs include homicidal or suicidal behavior, depression, and aggression. If undetected and untreated, the disorder is always fatal.
Early diagnosis is crucial since liver damage may occur before the onset of symptoms. Family members of those with a confirmed diagnosis of Wilson’s disease require testing and screening for the disease even if they have no symptoms. Screening tests should include the evaluation of serum ceruloplasmin levels and urinary copper output. Treatment of Wilson's disease generally involves removing excess copper from the body and preventing it from reaccumulating. Most cases are treated with the medications zinc acetate, trientine, and penicillamine. Penicillamine and trientine increase urinary excretion of copper, but both can cause serious side effects. Zinc acetate blocks the absorption of copper, increases copper excretion in the stool, and causes no serious side effects; thus, it is often considered the treatment of choice. Treatment is lifelong and also involves avoiding copper-rich foods in one’s diet.
Copyright, the American Association of Neurological Surgeons, September 2005.