Huntington's disease

By:
Maruel S. Piaza

 Huntington's disease
is a chronic, progressive, hereditary
disease of the nervous system that
results in progressive involuntary
choreiform movement and dementia.

STATISTICS

Huntington's disease affects an

estimated 3 to 7 per 100,000 people
of European ancestry. The disorder
appears to be less common in some
other populations, including African
Americans and Japanese.

 In the United States alone, about

30,000 people have Huntington's
disease; estimates of its prevalence
are about 1 in every 10,000 people.

 At least 150,000 others have a 50

percent risk of developing
Huntington's disease, and thousands
more of their relatives live with the
possibility that they, too, might
develop Huntington's disease.

Statistics

Huntington's Disease inNorth America

USA
8,809
293,655,4051
Canada
975
32,507,8742
Mexico
3,148
104,959,5942

Huntington's Disease in Central America

Belize
8
272,9452
Guatemala
428
14,280,5962
Nicaragua
160
5,359,7592
Huntington's Disease in Caribbean
Puerto Rico
116
3,897,9602

 Pathology

the basic pathology involves premature

death of cells in the striatum of the
ganglia, the region deep within the brain
that is involved in the control of
movement. Cells also lost in the cortex,
the region of the brain associated thinking,
memory, perception, and judgment, and in
the cerebellum, the area that coordinates
voluntary muscles activity.

Diagnosis
Preimplantation genetic diagnosis
Embryosproduced usingin vitro
fertilizationmay be genetically tested for HD
usingpreimplantation genetic diagnosis(PGD).
This technique, where one or two cells are
extracted from a typically 4 to 8 cell embryo
and then tested for the genetic abnormality,
can then be used to ensure embryos affected
with HD genes are not implanted, and
therefore any offspring will not inherit the
disease.

 Prenatal testing
It is also possible to obtain aprenatal
diagnosisfor an embryo orfetusin
the womb, using fetal genetic
material acquired throughchorionic
villus sampling.

Management
Physical therapy
Medications
1. Tetrabenazine
2. neurolepticsandbenzodiazepines

Prognosis
The length of the trinucleotide repeat accounts
for 60% of the variation in the age symptoms
appear and the rate they progress. A longer
repeat results in an earlier age of onset and a
faster progression of symptoms. Individuals with
more than sixty repeats often develop the
disease before age 20, while those with fewer
than 40 repeats may not ever develop
noticeable symptoms.The remaining variation is
due to environmental factors and other genes
that influence the mechanism of the disease.

 Life expectancy in HD is generally around 20years following the

onset of visible symptoms.Most life-threatening complications
result from muscle coordination and, to a lesser extent, behavioral
changes induced by declining cognitive function. The largest risk
ispneumonia, which causes death in one third of those with HD. As
the ability to synchronize movements deteriorates, difficulty
clearing the lungs and an increased risk ofaspiratingfood or drink
both increase the risk of contracting pneumonia. The second
greatest risk isheart disease, which causes almost a quarter of
fatalities of those with HD.Suicideis the third greatest cause of
fatalities, with 7.3% of those with HD taking their own lives and up
to 27% attempting to do so. It is unclear to what extent suicidal
thoughts are influenced by behavioral symptoms, as they signify
sufferers' desires to avoid the later stages of the disease. Other
associated risks include choking,physical injury from falls, and
malnutrition.

 THANK YOU