Huntington's disease treatment

Huntington's disease affects 8 per 100,000 inhabitants in Europe and North America, but it seems that other 40 per 100,000 have a fifty percent chance of carrying the gene responsible for the disease, and those who carry the disease manifest in the third or fourth decade of his life.

 This is a facial contraction of the lower extremities that progresses over ten to twenty five years to prevent a planned coordinated and ultimately leading to stiffness and dystonia. The deterioration of mental faculties, and even psychotic symptoms and depression accompany the final stages of the condition.

Its cause is a mutation in the gene four, autosomal dominant inheritance with complete penetrance. The genetic alteration is associated today with apoptosis, a form of programmed cell death, leading to neuronal destruction, although the reason why it specifically affects cells of basal ganglia and cortex is still unknown.

Computed tomography (CT) usually shows cerebral atrophy of the caudate nucleus in the cases established.

MRI spectroscopy and positron emission tomography (PET) have shown a decrease in glucose utilization in the caudate nucleus anatomically normal.

Huntington disease is treatable and cannot stop its progression and therapy is primarily symptomatic.

Blockers of dopamine receptors as phenothiazines or halopuridol can control dyskinesia and any behavior disorder.

Medically it is necessary to provide genetic counseling to the family and there is no safe way to determine if asymptomatic offspring has inherited the disease, although in some cases one can estimate the probability of carrying the gene that causes the disease, identifying a DNA marker genetically linked to specific gene.