| |
Neurological Conditions
Serious chronic neurological conditions are not limited to Parkinson's
Disease, multiple sclerosis and amyotrophic lateral sclerosis (ALS). There are
many other neurologic conditions that can have life-changing effects on
individuals. The Nevada Neuroscience Foundation is available to any individual
or care partner to assist with disease education, social service and quality of
life issues. The following is a list of some of the other conditions with which
the Foundation has been of assistance in the past*.
Alzheimer's Disease:
What is Alzheimer's Disease?
Alzheimer's disease (AD) is a progressive, neurodegenerative disease
characterized in the brain by abnormal clumps (amyloid plaques) and tangled
bundles of fibers (neurofibrillary tangles) composed of misplaced proteins. Age
is the most important risk factor for AD; the number of people with the disease
doubles every 5 years beyond age 65. Three genes have been discovered that
cause early onset (familial) AD. Other genetic mutations that cause excessive
accumulation of amyloid protein are associated with age-related (sporadic) AD.
Symptoms of AD include memory loss, language deterioration, impaired ability to
mentally manipulate visual information, poor judgment, confusion, restlessness,
and mood swings. Eventually AD destroys cognition, personality, and the ability
to function. The early symptoms of AD, which include forgetfulness and loss of
concentration, are often missed because they resemble natural signs of aging.
Is there any treatment?
There is no cure for AD and no way to slow the progression of the disease. For
some people in the early or middle stages of AD, medication such as tacrine
(Cognex) may alleviate some cognitive symptoms. Donepezil (Aricept),
rivastigmine (Exelon), and galantamine (Reminyl) may keep some symptoms from
becoming worse for a limited time. A fifth drug, memantine (Namenda), was
recently approved for use in the United States. Combining memantine with other
AD drugs may be more effective than any single therapy. One controlled clinical
trial found that patients receiving donepezil plus memantine had better
cognition and other functions than patients receiving donepezil alone. Also,
other medications may help control behavioral symptoms such as sleeplessness,
agitation, wandering, anxiety, and depression.
What is the prognosis?
AD is a progressive disease, but its course can vary from 5 to 20 years. The
most common cause of death in AD patients is infection
Epilepsy:
What is Epilepsy?
Epilepsy is a brain disorder in which clusters of nerve cells, or neurons, in
the brain sometimes signal abnormally. In epilepsy, the normal pattern of
neuronal activity becomes disturbed, causing strange sensations, emotions, and
behavior or sometimes convulsions, muscle spasms, and loss of consciousness.
Epilepsy is a disorder with many possible causes. Anything that disturbs the
normal pattern of neuron activity - from illness to brain damage to abnormal
brain development - can lead to seizures. Epilepsy may develop because of an
abnormality in brain wiring, an imbalance of nerve signaling chemicals called
neurotransmitters, or some combination of these factors. Having a seizure does
not necessarily mean that a person has epilepsy. Only when a person has had two
or more seizures is he or she considered to have epilepsy. EEGs and brain scans
are common diagnostic test for epilepsy.
Is there any treatment?
Once epilepsy is diagnosed, it is important to begin treatment as soon as
possible. For about 80 percent of those diagnosed with epilepsy, seizures can
be controlled with modern medicines and surgical techniques. Some antiepiletic
drugs can interfere with the effectiveness of oral contraceptives. In 1997, the
FDA approved the vagus nerve stimulator for use in people with seizures that
are not well-controlled by medication.
What is the prognosis?
Most people with epilepsy lead outwardly normal lives. While epilepsy cannot
currently be cured, for some people it does eventually go away. Most seizures
do not cause brain damage. It is not uncommon for people with epilepsy,
especially children, to develop behavioral and emotional problems, sometimes
the consequence of embarrassment and frustration or bullying, teasing, or
avoidance in school and other social setting. For many people with epilepsy,
the risk of seizures restricts their independence (some states refuse drivers
licenses to people with epilepsy) and recreational activities. People with
epilepsy are at special risk for two life-threatening conditions: status
epilepticus and sudden unexplained death. Most women with epilepsy can become
pregnant, but they should discuss their epilepsy and the medications they are
taking with their doctors. Women with epilepsy have a 90 percent or better
chance of having a normal, healthy baby.
What research is being done?
Scientists are studying potential antiepileptic drugs with goal of enhancing
treatment for epilepsy. Scientists continue to study how neurotransmitters
interact with brain cells to control nerve firing and how non-neuronal cells in
the brain contribute to seizures. One of the most-studied neurotransmitters is
GABA, or gamma-aminobutryic acid. Researchers are working to identify genes
that may influence epilepsy. This information may allow doctors to prevent
epilepsy or to predict which treatments will be most beneficial. Doctors are
now experimenting with several new types of therapies for epilepsy, including
transplanting fetal pig neurons into the brains of patients to learn whether
cell transplants can help control seizures, transplanting stem cells, and using
a device that could predict seizures up to 3 minutes before they begin.
Researchers are continually improving MRI and other brain scans. Studies have
show that in some case, children may experience fewer seizures if they maintain
a strict diet - called the ketogenic diet - rich in fats and low in
carbohydrates.
Huntington's Disease:
What is Huntington's Disease?
Huntington's disease (HD) results from genetically programmed degeneration of
brain cells, called neurons, in certain areas of the brain. This degeneration
causes uncontrolled movements, loss of intellectual faculties, and emotional
disturbance. HD is a familial disease, passed from parent to child through a
mutation in the normal gene. Each child of an HD parent has a 50-50 chance of
inheriting the HD gene. If a child does not inherit the HD gene, he or she will
not develop the disease and cannot pass it to subsequent generations. A person
who inherits the HD gene will sooner or later develop the disease. Whether one
child inherits the gene has no bearing on whether others will or will not
inherit the gene. Some early symptoms of HD are mood swings, depression,
irritability or trouble driving, learning new things, remembering a fact, or
making a decision. As the disease progresses, concentration on intellectual
tasks becomes increasingly difficult and the patient may have difficulty
feeding himself or herself and swallowing. The rate of disease progression and
the age of onset vary from person to person. A genetic test, coupled with a
complete medical history and neurological and laboratory tests, help
physician's diagnose HD. Presymptomic testing is available for individuals who
are at risk for carrying the HD gene. In 1 to 3 percent of individuals with HD,
no family history of HD can be found.
Is there any treatment?
Physicians prescribe a number of medications to help control emotional and
movement problems associated with HD. Most drugs used to treat the symptoms of
HD have side effects such as fatigue, restlessness, or hyperexcitability. It is
extremely important for people with HD to maintain physical fitness as much as
possible, as individuals who exercise and keep active tend to do better than
those who do not.
What is the prognosis?
At this time, there is no way to stop or reverse the course of HD. Now that the
HD gene has been located, investigators are continuing to study the HD gene
with an eye toward understanding how it cause disease in the human body.
What research is being done?
Scientific investigations using electronic and other technologies enable
scientists to see what the defective gene does to various structures in the
brain and how it affects the body's chemistry and metabolism. Laboratory
animals are being bred in the hope of duplicating the clinical features of HD
so that researchers can learn more about the symptoms and progression of HD.
Investigators are implanting fetal tissue in rodents and nonhuman primates with
the hope of understanding, restoring, or replacing functions typically lost by
neuronal degeneration in individuals with HD. Related areas of investigation
include excitotoxicity (overstimulation of cells by natural chemicals found in
the brain), defective energy metabolism (a defect in the mitochondria),
oxidative stress (normal metabolic activity in the brain that produces toxic
compounds called free radicals), tropic factors (natural chemical substances
found in the human body that may protect against cell death).
Muscular Dystrophy:
What is Muscular Dystrophy?
The muscular dystrophies (MD) are a group of more than 30 genetic diseases
characterized by progressive weakness and degeneration of the skeletal muscles
that control movement. Some forms of MD are seen in infancy or childhood, while
others may not appear until middle age or later. The disorders differ in terms
of the distribution and extent of muscle weakness (some forms of MD also affect
cardiac muscle), age of onset, rate of progression, and pattern of inheritance.
Duchenne MD is the most common form of MD and primarily affects boys. It
is caused by the absence of dystrophin, a protein involved in maintaining the
integrity of muscle. Onset is between 3 and 5 years and the disorder progresses
rapidly. Most boys are unable to walk by age 12, and later need a respirator to
breathe. Girls in these families have a 50 percent chance of inheriting and
passing the defective gene to their children. Boys with Becker MD (very
similar to but less severe than Duchenne MD) have faulty or not enough
dystrophin.
Facioscapulohumeral MD usually begins in the teenage years. It causes
progressive weakness in muscles of the face, arms, legs, and around the
shoulders and chest. It progresses slowly and can vary in symptoms from mild to
disabling.
Myotonic MD is the disorder's most common adult form and is typified by
prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine
disturbances. Individuals with myotonic MD have long, thin faces, drooping
eyelids, and a swan-like neck.
Is there any treatment?
There is no specific treatment to stop or reverse any form of MD. Treatment may
include physical therapy, respiratory therapy, speech therapy, orthopedic
appliances used for support, and corrective orthopedic surgery. Drug therapy
includes corticosteroids to slow muscle degeneration, anticonvulsants to
control seizures and some muscle activity, immunosuppressants to delay some
damage to dying muscle cells, and antibiotics to fight respiratory infections.
Some individuals may benefit from occupational therapy and assistive
technology. Some patients may need assisted ventilation to treat respiratory
muscle weakness and a pacemaker for cardiac abnormalities.
What is the prognosis?
The prognosis for people with MD varies according to the type and progression
of the disorder. Some cases may be mild and progress very slowly over a normal
lifespan, while others produce severe muscle weakness, functional disability,
and loss of the ability to walk. Some children with MD die in infancy while
others live into adulthood with only moderate disability.
What research is being done?
The NINDS supports a broad program of research studies on MD. The goals of
these studies are to understand MD and to develop techniques to diagnose,
treat, prevent, and ultimately cure the disorder.
Myesthenia Gravis:
What is Myasthenia Gravis?
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized
by varying degrees of weakness of the skeletal (voluntary) muscles of the body.
The hallmark of myasthenia gravis is muscle weakness that increases during
periods of activity and improves after periods of rest. Muscles that control
eye and eyelid movements, facial expression, chewing, talking, and swallowing
are often, but not always, involved. The muscles that control breathing and
neck and limb movements may also be affected. Myasthenia gravis is caused by a
defect in the transmission of nerve impulses to muscles. Normally when impulses
travel down the nerve, the nerve endings release a neurotransmitter substance
called acetylcholine. In myasthenia gravis, antibodies produced by the body's
own immune system block, alter, or destroy the receptors for acetylcholine. The
first noticeable symptoms of myasthenia gravis may be weakness of the eye
muscles, difficulty in swallowing, or slurred speech. Symptoms vary in type and
severity. Myasthenia gravis is not directly inherited nor is it contagious. The
first steps in diagnosing myasthenia gravis include a review of the
individual's medical history and physical and neurological examinations. If the
doctor suspects myasthenia gravis, several diagnostic tests are available to
confirm the diagnosis, including a special blood test that can detect the
presence of immune molecules or acetylcholine receptor antibodies.
Is there any treatment?
Myasthenia gravis can be controlled. Some medications improve neuromuscular
transmission and increase muscle strength, and some suppress the production of
abnormal antibodies. These medications must be used with careful medical
followup because they may cause major side effects. Thymectomy, the surgical
removal of the thymus gland (which often is abnormal in myasthenia gravis
patients), improves symptoms in certain patients and may cure some individuals,
possibly by re-balancing the immune system. Other therapies include
plasmapheresis, a procedure in which abnormal antibodies are removed from the
blood, and high-dose intravenous immune globulin, which temporarily modifies
the immune system and provides the body with normal antibodies from donated
blood.
What is the prognosis?
With treatment, the outlook for most patients with myasthenia is bright: they
can expect to lead normal or nearly normal lives. Some case of myasthenia
gravis may go into remission temporarily, and muscle weakness may disappear so
that medications can be discontinued. In a few cases, the severe weakness of
myasthenia gravis may cause respiratory failure, which requires immediate
emergency medical care.
What research is being done?
Scientists are evaluating new and improving current treatments for myasthenia
gravis. One study is testing the efficacy of intravenous immune globulin, and
another study seeks to understand the molecular basis of synaptic transmission
in the nervous system.
*Information regarding the above medical conditions has been provided courtesy
of the National Institute of Neurological Disorders and Stroke.
|
|