In rare disease, Huntington's chorea is one of the highest incidence. It is a progressive neurodegenerative disease that causes severe consequences as the emergence of involuntary movements, dementia, personality changes and psychiatric involvement.
Data Huntington's chorea
Huntington's chorea is a disease caused by the alteration of a gene called "huntingtin" located on chromosome 4 DNA. It has an autosomal dominant pattern, ie, the descendants of an affected individual have a 50% chance of inheriting this disease. If genetically receipt, it is certain that throughout his life developed.
Appearance of the first symptoms and treatment
His manifestation usually occurs between 30 and 50 years and its development has a fatal end after 15 or 20 years of progressive physical and mental incapacitation of the disease.
Currently there is no cure, but the possibility of preventing transmission to their children thanks to the Preimplantation genetic diagnosis (PGD) method of assisted reproduction. With this diagnosis embryos previously obtained by the technique of in vitro fertilization (IVF) they are studied to select those that are free of the disease. Embryos after analysis results indicate a normal transferred to the womb. This is a solution for those people suffering from the disease or suspect they might carry it, but do not give up the ability to have healthy children.
Analysis to parents
If a person suspects that carries the Huntington's different protocols are offered, depending on whether or not to know if they are carriers of the genetic alteration.
For patients who want to know if they have the altered gene, but at that time did not show any symptom of the disease, tests were performed on the affected gene, both them and the embryos obtained through IVF. However, at other times the patient wishes no carrier status, but wants the analysis to be performed embryos and avoid having children affected by this disease. In the latter case, which is the most common, it can proceed in two ways:
- We test both the parent and the embryos, but the results are reported to the parent, thus leaving custody center.
- "Indirect" method. This procedure is the most recommended in the case of parents with families affected by Huntington's chorea and do not want to know their genetic status. The person at risk is not subjected to the studio to see if you have the altered gene, so no one will know if this disease suffer in the future. The couple makes IVF treatment combined with DGP "exclusion". Embryos indirectly, so they choose only analyze those who have not inherited the chromosomal region of the sick family. The advantage of this option is that the patient does not know if a carrier of the disease, which does not involve a constraint for their lives. "