1440 SECTION 11 Problems Related to Movement and Coordination
GENETICS IN CLINICAL PRACTICE INFORMATICS IN PRACTICE
Huntington’s Disease (HD)
Genetic Basis
• Autosomal dominant disorder.
• Caused by mutation in HTT gene located on chromosome 4.
Incidence
• 1 in 10,000.
• Higher incidence in people of European ancestry.
• With each pregnancy a heterozygous affected parent has a 5%
chance of having a child with HD.
Genetic Testing
• DNA testing is available.
• DNA testing can be done on fetal cells obtained by amniocentesis or
chorionic villus sampling.
• Preimplantation genetic diagnosis can be done on embryos before
implantation and pregnancy.
• One copy of altered gene is sufficient to cause HD.
• No test is available to predict when symptoms will develop.
Clinical Implications
• HD is a progressive, degenerative brain disorder.
• Onset of disease usually occurs at 30–50 yr of age. No cure is
available.
• Drugs are available to control movements and behavioral problems.
• Genetic counseling may be considered if there is a family history
of HD.
• Because HD is an autosomal dominant disorder, individuals who are
at risk have a strong motivation to seek genetic testing.
• A positive result is not considered a diagnosis, since it may be
obtained decades before the symptoms begin.
• A negative test means that the individual does not carry the mutated
gene and will not develop HD.
HUNTINGTON’S DISEASE
Huntington’s disease (HD) is a genetically transmitted, auto-
somal dominant disorder that affects both men and women of
all races. The offspring of a person with this disease have a 50%
risk of inheriting it (see Genetics in Clinical Practice box
above). The onset of HD is usually between 30 and 50 years of
age. Often the diagnosis is made after the affected individual
has had children. About 15,000 Americans are symptomatic,
and 150,000 are at risk for HD.27
The diagnostic process begins with a review of the family
history and clinical symptoms. Genetic testing confirms the
disease in a person with symptoms. People who are asymptom-
atic but who have a positive family history of HD face the
dilemma of whether to be genetically tested. If the test is posi-
tive, the person will develop HD, but when and to what extent
the disease develops cannot be determined.
Like PD, the pathologic process of HD involves the basal
ganglia and the extrapyramidal motor system. However, instead
of a deficiency of DA, HD involves a deficiency of the neu-
rotransmitters ACh and γ-aminobutyric acid (GABA). The net
effect is an excess of DA, which leads to symptoms that are the
opposite of those of parkinsonism.
The clinical manifestations are a movement disorder and
cognitive and psychiatric disorders. The movement disorder is
characterized by abnormal and excessive involuntary move-
ments (chorea). These are writhing, twisting movements of
the face, the limbs, and the body. The movements get worse as
Social Networking in Huntington’s Disease
• Many patients with Huntington’s disease experience social isolation
and depression.
• Encourage the patient to participate in an online community where
people who have Huntington’s disease discuss their condition.
• Social contact and a social network with others who have Hunting-
ton’s disease will help patients deal better with their illness and
improve their quality of life.
the disease progresses. Facial movements involving speech,
chewing, and swallowing are affected and may cause aspiration
and malnutrition. The gait deteriorates, and ambulation eventu-
ally becomes impossible.
Psychiatric symptoms are frequently present in the early
stage of the disease, often before the onset of motor symptoms.
Depression is common. Other psychiatric symptoms include
anxiety, agitation, impulsivity, apathy, social withdrawal, and
obsessiveness. Cognitive deterioration is more variable and
involves perception, memory, attention, and learning. Eventu-
ally all psychomotor processes, including the ability to eat and
talk, are impaired.
Death usually occurs 10 to 20 years after the onset of symp-
toms. The most common cause of death is pneumonia, followed
by suicide. Other causes of death include injuries related to a
fall and other complications.27
Because HD has no cure, collaborative care is palliative. Tet-
rabenazine (Xenazine) is used to treat the chorea and works to
decrease the amount of DA available at synapses in the brain
and thus decreases the involuntary movements of chorea.
Other medications used for the movement disorder include
neuroleptics such as haloperidol and risperidone (Risperdal),
benzodiazepines such as diazepam and clonazepam, and
DA-depleting agents such as reserpine and tetrabenazine.
Cognitive disorders are treated as needed with nondrug thera-
pies (e.g., counseling, memory books). The psychiatric disor-
ders can be treated with selective serotonin reuptake inhibitors
such as sertraline (Zoloft) and paroxetine (Paxil). Antipsychotic
medication, such as haloperidol or risperidone, may also be
needed.
HD presents a great challenge to health care professionals.
The goal of nursing management is to provide the most com-
fortable environment possible for the patient and caregiver by
maintaining physical safety, treating the physical symptoms,
and providing emotional and psychologic support.
Because of the choreic movements, caloric requirements
are high. Patients may require as many as 4000 to 5000 cal/day
to maintain body weight. As the disease progresses, meeting
caloric needs becomes a greater challenge when the patient has
difficulty swallowing and holding the head still. Depression and
mental deterioration can also compromise nutritional intake.
Alternative sources of nutrition may be indicated as the disease
progresses.
End-of-life issues need to be discussed with the patient and
caregiver. These include care in the home or long-term care
facility, artificial methods of feeding, advance directives and
cardiopulmonary resuscitation (CPR), use of antibiotics to treat
infections, and guardianship. These topics should be addressed
throughout the course of the disease as the patient and caregiver
adapt to increasing disability.