Huntington’s Disease – Is It a Genetic Disorder?

Huntington’s disease is a genetic disorder of the brain, and it affects people of all races through out the world. Huntington’s disease is a hereditary disease. It is believed that there is nearly 50% chance of inheriting the disease, by the children of parents who are afflicted with Huntington’s. The disease gets its name from George Huntington, an American physician. He published a paper on what he called “hereditary chorea” in 1872. In the paper published by him he has tried to correctly describe the consequences of this disease on various generations of a family living in Long Island, New York. An interesting fact is that George Huntington’s father, George Lee Huntington, and grandfather, Dr. Abel Huntington, who were both physicians, have also registered their reflections on the same stricken Long Island family. The findings of his father and grandfather had an impact on the young George Huntington’s and these findings played an important role in publishing his paper.

Huntington’s disease is classified as “trinucleotide repeat disorders” which is one of various genetic neurological diseases. Each of the diseases shows many physical, behavioral and cognitive symptoms. But when it comes to Huntington’s, the behavioral and cognitive symptoms differ from patient to patient and are generally not discerned early during the disease’s progression. Physical indications are the same among all patients. Doctors who diagnose the disease usually take these physical symptoms as the first sign. Distinctive physical indications of Huntington diseases are random, unmanageable jerky movements called chorea, which is derived from Greek meaning “circle dance”. The symptoms become worse with the progression of the disease and it results in walking, swallowing and talking troubles. Cognitive and behavioral indications also worsen in the latter stages of the disease. However, Huntington’s disease by itself does not result in death; but cumbersomeness, from the disease such as asphyxiating or infection may cause death.

The attack of physical symptoms of Huntington’s disease can occur at any age, but it should be noted that the disease mostly starts in people in their mid-life, between 30 and 50. Almost nearly 15 or 20 years after the first physical indications show themselves, death will occur. Approximately 10% of Huntington’s start in patients who are below the age of 10. This form of the disease is known as Juvenile Huntington’s Disease.

Research

In 1993, the Huntington’s Disease Collaborative Research Group separated the exact gene which is accountable for the disease. This study resulted in accurately testing the disease only through a blood sample. Before this research, the disease had to be tested by a process of linkage analysis. This testing method involved blood samples taken from various members in a family with a history of Huntington’s. Testing for Huntington’s disease, particularly in minors, have much moral significance. Since a positive test for Huntington’s in an individual will entail their family members as being at risk from the disease. Testing for Huntington’s is mostly not extended to those below 18 years of age.

The exact mechanism of the disease is not yet known. An all-inclusive research is being carried out on the causes and probable remedies of Huntington’s. Intrabody therapy, where genetically engineered intracellular antibody fragments are introduced to fight Huntington’s and various other neurological disorders shows promise. Other techniques utilizing innovative genetic and medical technology such as gene silencing and stem cell implants are also under way. Several new drugs to help combat the symptoms of Huntington’s are also being tested with some like HD-02 and ACR-16 reaching phase-3 clinical trials, which are encouraging signs of the drugs’ efficacy.