Huntington's disease, a genetic disorder that doesn't cause symptoms normally until between the ages of 35 and 50, according to the Merck Manuals, has devastating physical and emotional side effects that culminate in premature death. People living with Huntington's disease or with the possibility of developing the disease due to family history face many difficult challenges.
History
Most people with Huntington's disease have a first-degree relative with the disorder, although spontaneous genetic mutations do occasionally occur. Huntington's disease, an autosomal dominant genetic condition, needs only be inherited from one parent for a person to have the disease. Each child with a parent with Huntington's disease has a 50 percent chance of developing Huntington's disease. Men and women are equally affected. In around 1 to 3 percent of people with Huntington's disease, spontaneous mutations occur and no family history is found, the National Institute of Neurological Disorders and Stroke reports.
Significance
Huntington's disease occurs as a single gene mutation that, if inherited, affects every person with the gene, if they live long enough, MayoClinic.com explains. As of August 2010, no treatment to prevent development of the disease or to adequately treat it exists, although drugs to modify symptoms may be used.
Effects
Symptoms of Huntington's disease affect every aspect of a person's life. Symptoms start slowly and insidiously but progress over time. Early symptoms include personality changes such as decreased interest in life, apathy, anger, depression, irritability and antisocial behavior. Personality changes may occur before or simultaneously with motor effects, Merck Manuals states. Memory, decision making ability and the ability to learn also decrease. Some people develop full-blown psychiatric disorders such as bipolar disorder or schizophrenia-like disorders, and eventually, dementia. Seizures may also occur.
Physical symptoms include clumsiness, balance problems and facial grimacing. Motor skills worsen over time, causing jerking motions of the extremities, rapid, jerky eye movements and extreme loss of balance. Swallowing becomes more difficult. At the end of life, a person with Huntington's disease can no longer walk. People who develop Huntington's at a younger age may have muscle rigidity, tremors and slow, repetitive movements like those seen in people with Parkinson's disease.
Time Frame
While symptoms usually appear in middle age, young children can develop the disease. People who develop the disease at a younger age often have a more severe disease progression. Once symptoms appear, most people die within 13 to 15 years, Merck Manuals states, with a range of 10 to 30 years, MayoClinic.com adds.
Considerations
People with a family history of Huntington's disease often agonize over whether to have genetic testing to determine their susceptibility. While testing results are usually definitive, around 1 percent of people tested fall into a gray zone and may not develop the disease, or may develop it much later in life, the University of Washington reports. While having a definite answer helps people plan for the future, it can also cause depression and negative psychological effects even in those without the gene, who may have survivor's guilt or concern about caring for members of the family with the gene.
