Huntington s disease is a rare neurodegenerative disease that is inherited as an autosomal dominant, meaning that the person's children have a 50% chance of developing. The disease affects both women and men and begins to develop between 40 and 50 years of age.
Along with the development of genetic analysis, it was determined that the person has an inherited variant of the gene for the protein huntingtin. This gene variant has at one end more than 40 repetitions of nitrogen bases, cytosine, adenine and guanine (CAG). The higher the number of recurrence occurs earlier and the number of repetitions increases from generation to generation.
Symptomatology of the disease:
The first signs are very subtle, and are characterized by changes in mental status, and little jerks, clumsiness, or sudden falls. Uncontrolled movements (chorea) gradually increase, reducing the human motor skills, speech becomes indistinct at first, then unintelligible, and finally disappears altogether, and facial expressions are distorted and grotesque. Psychological disturbances is exacerbated by anxiety and depressive states and expressed aggression and self-centeredness. The disease is progressive and death occurs within 15-odd years since the first symptoms.
Recognizing today's growing need for genetic testing for early diagnosis, analysis of the clinic has offered its customers two genetic tests: a genetic test to assess the development of Alzheimer's disease, and genetic test to assess the development of neurodegenerative diseases. All polymorphisms are carefully selected and approved by an expert team of scientists and physicians on the basis of modern scientific evidence.
- 2012/07/05(木) 00:06:59|