Although records of symptoms have been traced as far back as the Middle Ages, it was not until the late s that physician George Huntington first documented the hereditary nature of the disease that bears his name. It was the late onset and hereditary character that distinguished HD from other diseases with similar symptoms. Having a working familiarity with the basic genetics of HD is key to understanding the inheritance and expression of the disease.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
This page has been archived and is no longer updated. What if a simple blood test could tell you with absolute certainty that you would suffer from a deadly neurodegenerative disease late in life? What if the same test could tell you your chances of passing this disease on to your children?
Have people ever said to you, "It's in your genes"? They were probably talking about a physical characteristic, personality trait, or talent that you share with other members of your family. We know that genes play an important role in shaping how we look and act and even whether we get sick.
In these disorders, healthy individuals have a variable number of triplet repeats, but there is a threshold beyond which a high number of repeats causes disease. This threshold varies in different disorders. The triplet repeat expansion is sometimes called a dynamic or unstable mutation because, as the gene is passed from parent to offspring, the number of triplet repeats may increase.
Search A-Z. Mild symptoms, which include forgetfulness, clumsiness and personality changes first appear in middle age. Over the next years, a person with HD gradually loses all control of their mental and physical abilities.
Discoveries on DNA structure, the genetic code, the genome and the observation that some characters and hereditary diseases do not follow classical mendelian inheritance have led researchers to define other patterns of transmission, referring particularly to multifactorial and mitochondrial inheritance. Multifactorial inheritance is based on the synergy of genes and environmental factors. Extra nuclear mitochondrial heredity can only be transmitted by the mother whose cells contain a number of mitochondria.
Huntington's disease HDalso known as Huntington's choreais an inherited disorder that results in the death of brain cells. There is no cure for HD. The first likely description of the disease was in by Charles Oscar Waters. The most characteristic initial physical symptoms are jerky, random, and uncontrollable movements called chorea.
Single gene disorders are caused by DNA changes in one particular gene, and often have predictable inheritance patterns. A pedigree diagram showing the inheritance pattern of a dominant disease What is a pedigree diagram? A pedigree diagram showing the inheritance pattern of a recessive disease What is a pedigree diagram?