The great American folk singer and composer Woody Guthrie died on October 3, 1967, after suffering from HD for 13 years. He had been misdiagnosed, considered an
alcoholic, and shuttled in and out of mental institutions and hospitals for years before being properly diagnosed. His case, sadly, is not extraordinary, although the diagnosis can be made easily by experienced neurologists.
A neurologist will interview the individual intensively to obtain the medical history and rule out other conditions. A tool used by physicians to diagnose HD is to take the family history, sometimes called a pedigree or genealogy. It is extremely important for family members to be candid and truthful with a doctor who is taking a family history.
The doctor will also ask about recent intellectual or emotional problems, which may be indications of HD, and will test the person's hearing, eye movements, strength, coordination, involuntary movements (chorea), sensation, reflexes, balance, movement, and mental status, and will probably order a number of laboratory tests as well.
People with HD commonly have impairments in the way the eye follows or fixes on a moving target. Abnormalities of eye movements vary from person to person and differ, depending on the stage and duration of the illness.
The discovery of the HD gene in 1993 resulted in a direct genetic test to make or confirm a diagnosis of HD in an individual who is exhibiting HD-like symptoms. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region. Individuals who do not have HD usually have 28 or fewer CAG repeats. Individuals with HD usually have 40 or more repeats. A small percentage of individuals, however, have a number of repeats that fall within a borderline region (see table 1).
No. of CAG repeats
Outcome
≤ 28
Normal range; individual will not develop Huntington's disease
29-34
Individual will not develop Huntington's disease but the next generation is at risk
35-39
Some, but not all, individuals in this range will develop Huntington's
disease; next
generation is at risk
≥ 40
Individual will develop Huntington's disease
The physician may ask the individual to undergo a brain imaging test. Computed tomography (CT) and magnetic resonance imaging (MRI) provide excellent images of brain structures with little if any discomfort. Those with HD may show shrinkage of some parts of the brain—particularly two areas known as the caudate nuclei and putamen—and enlargement of fluid-filled cavities within the brain called ventricles. These changes do not definitely indicate HD, however, because they can also occur in other disorders. In addition, a person can have early symptoms of HD and still have a normal CT scan. When used in conjunction with a family history and record of clinical symptoms, however, CT can be an important diagnostic tool.
Another technology for brain imaging includes positron emission tomography (PET,) which is important in HD research efforts but is not often needed for diagnosis.
Constipation is defined medically as fewer than three stools per week and severe constipation as less than one stool per week. Constipation usually is caused by the slow movement of stool through the colon. There are many causes of constipation including medications, poor bowel habits, low fiber diets, abuse of laxatives, hormonal disorders, and diseases primarily of other parts of the body that also affect the colon.
Dehydration is the excessive loss of body water. There are a number of causes of dehydration including heat exposure, prolonged vigorous exercise, and some diseases of the gastrointestinal tract. The best way to treat dehydration is to prevent it from occurring.
Dementia is a significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. There are different criteria classification schemes for dementias such as cortical, subcortical, progressive, primary, and secondary dementias. Other conditions and medication reactions can also cause dementia. Dementia is diagnosed based on a certain set of criteria. Treatment for dementia is generally focused on the symptoms of the disease.
Depression is an illness that involves the body, mood, and thoughts and affects the way a person eats and sleeps, the way one feels about oneself, and the way one thinks about things. The principal types of depression are major depression, dysthymia, and bipolar disease (also called manic-depressive disease).
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Tremor is the involuntary movements of one or more parts of the body. Causes of tremor include neurological disorders, neurodegenerative diseases, drugs, mercury poisoning, overactive thyroid and liver failure. There are several types of tremor. Treatment depends upon the type of tremor and availability of medications for the condition.
Dysphagia or difficulty in swallowing, swallowing problems. Dysphagia is due to problems in nerve or muscle control. It is common, for example, after a stroke. Dysphagia compromises nutrition and hydration and may lead to aspiration pneumonia and dehydration.
Obsessive compulsive disorder (OCD) is an anxiety disorder that causes a person to suffer repeated obsessions and compulsions. Symptoms include irresistible impulses despite a person's realization that the thoughts are irrational, excessive hand washing, skin picking, lock checking, or repeatedly rearranging items. People with OCD are more likely to develop trichotillomania, muscle or vocal tics, or an eating disorder. Treatment for OCD includes psychotherapy, behavioral therapy, and medication.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
There are many types of urinary incontinence (UI), which is the accidental leakage of urine. These types include stress incontinence, urge incontinence, and overflow incontinence. Urinary incontinence in men may be caused by prostate or nerve problems. Treatment depends upon the type and severity of the UI and the patient's lifestyle.
Dystonia disorders cause involuntary movements and prolonged muscle contraction, resulting in twisting body motions, tremor, and abnormal posture. There are many forms of dystonia. Some types of dystonia respond to dopamine, or can be controlled with dedative-type medications, or surgery.
Seizures are divided into two categories: generalized and partial. Generalized seizures are produced by electrical impulses from throughout the brain, while partial seizures are produced by electrical impulses in a small part of the brain. Seizure symptoms include unconsciousness, convulsions, and muscle rigidity.
Millions of women suffer from urinary incontinence (UI). UI occurs twice as often in women as in men. There are many types of urinary incontinence: stress incontinence, urge incontinence, overactive bladder, functional incontinence, overflow incontinence, transient incontinence, and mixed incontinence.
Urinary incontinence in children (enuresis) is twice as common in boys as in girls and may occur during the daytime or nighttime. Nighttime urinary incontinence is also called bedwetting and sleepwetting. The cause of nighttime incontinence in children is unknown. Daytime incontinence in children may be caused by an overactive bladder. Though many children overcome urinary incontinence naturally, it may be necessary to treat incontinence with medications, bladder training and moisture alarms, which wake the child when he or she begins to urinate.
Most often, caregivers take care of other adults who are ill or disabled. Less often, caregivers are grandparents raising their grandchildren. The majority of caregivers are middle-aged women. Caregiving can be very stressful, so it's important to recognize when it's putting to much strain on you and to take steps to prevent/relieve stress.
Depression in the elderly is very common. That doesn't mean, though, it's normal. Treatment may involve antidepressants, psychotherapy, or electroconvulsive therapy.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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