Huntington's Disease

Huntington's Disease is a rather common (in comparison to other neurogical diseases) hereditary disease that stems from the basal ganglia. The disease is named after a relatively unknown Ohio doctor, Dr. George Huntington, who first recognized the condition in 1872. However, recent studies have emerged, stating that doctors as early as the Middle Ages began to associate the symptoms as a common illness. Huntington's affects 8 out of every 100,000 people, and of those infected, approximately 10 percent have what is known as Juvenile Huntington's Disease or Juvenile HD. The disease most often becomes apparent in a person's adult years (specifically, around the age of 35), though instances of juveniles being affected by the disease have been reported. The disease is also often confused with Lou Gehrig's and Parkinson's Disease.

The HD gene, the gene that determines whether or not someone will have Huntington's Disease, is derived from chromosome number 4, and the HD gene contains a three-base sequence: CAG. A normal HD gene has what is referred to as a trinucleotide repeat, and contains fewer than 40 glutamine amino acid residues, which in turn produces a 348 kDa cytoplasmic protein known as Htt. If DNA has in surplus of 40 glutamine amino acid residues, a mutation of mHtt occurs, which is the primary cause of the disease. Huntington's Disease is also autosomal dominant, which means that an affected person has only a 50 percent chance in passing on the disease to their offspring.

Symptoms for Huntington's Disease are not immediate, but rather progressive over the course of 15 to 20 years, and thus they are often not apparent enough to make a diagnosis without testing the CAG sequences. Symptoms that are prevalent in HD patients are abnormal muscle spasms, lack of coordination, speech impairment, difficulty swallowing, and excessive weight-loss. Essentially, as the disease progresses, the motor skills of the person decline. As the disease is a neurological disease, most of the digression revolves around the brain, with a loss of cognitive and psychopathological abilities, but muscle coordination also begins to fail.

The disease is perhaps the most accurately diagnosed neurological disease out of all, using CAG sequence testing. Additionally, blood tests can be ran before symptoms are apparent, which also has a high success rate. Negative blood tests mean that the individual does not have HD, nor will their offspring; however, positive blood tests mean that the disease will eventually make itself apparent, and they have a 50 percent chance of passing it onto their children.

Huntington's Disease will continue to progress in a patient, regardless of the treatment administered, as there isn't any known cure for the disease as of yet. However, treatments can be done to attempt to slow the progression of the disease, such treatments include: chorea medication, antidepressants, strict diets, and speech therapy. Essentially, these treatments are administered to help the patients cope with their disease and reduce the symptoms effects on their daily life.