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HD as an Example of Social Injustice | hdom.org

HD as an Example of Social Injustice




Huntington Disease. A rare genetic disorder, an example of social injustice

Written by Ferdinando Squitieri, President and Scientific Director of LIRH – Italian League for Research on Huntington and related disease (www.lirh.it) – June 2013


The cause of the disease

Huntington’s disease and ‘a hereditary degenerative disease is very serious and  complex that primarily affects the nervous system, but not only, also muscles  and other organs are affected so it is more correct to define it as a systemic  disease . Today we know the genetic cause, we are able to reproduce in  laboratory animal models, we know better the multiple biochemical events that  underlie it and see closer care. A single gene and it ‘responsible, with  stretch of DNA more extensive than necessary, it generates a protein with a high  number of defined amino acids glutamine, or, in technical jargon,’ Q ‘. More are  the ‘Q’ transmitted by the sick parent, before the disease occurs in children .  Are only now beginning to define the multiple clinical variants of the disease  and we can locate its presence in almost all the peoples of the world and in all  races.


“That disorder” (the evil): discrimination has distant origins

Despite this huge gain knowledge, Huntington’s disease has not, however,  undressed wearing apparel perhaps at least two thousand years, when the ‘Q’  inside that gene were already too many and toxic and attributed, even then The  role of disease and discriminated against unspeakable, so let it be defined by  the common people, in 800, as “that disorder – that evil.” Before the clearest  and most known description in 1872 of an American doctor from Long Island, near  New York , named George Huntington in a scientific journal of the time in an  article entitled “On chorea”, the disease had connotations unclear in which the  elements that characterized it were involuntary movement like a dance  uncontrollably (for which the name chorea from the greek ) and the mental  disorder. It is said that the first descriptions of involuntary movements dating  back to the Holy Scriptures , when some miracles are reported from the Bible to  people maybe suffering from this evil. The first, perhaps, to give an initial  description was an eccentric man who called himself Paracelsus , rather arrogant  and unconventional, that at the beginning of 1500, recognized it as a possible  disease.  Subsequently the typical choreic involuntary movement takes various  names depending on the location in which it is described: “St. Joh’s or St.  Vitus’ Dance” in Germany, “Dance de St. Guy” in France, or from the Latin,  “Chorea Sancti Viti” , this last name perhaps the best known of all. Then  assumed other titles between 1500 and 1800 including “Tarantismo” , probably  from the dance of Italian origin in Lecce called ” Taranta “, as reported by the  Canadian neurologist Andre Barbeau, in an article published in 1958 in the  Journal of Nervous and Mental Disease . Historical reconstructions of families  subsequently described by George Huntington, who emigrated from England to the  United States, report the presence of sick of Korea since 1600 . ‘s description  Vessie of 1932 tells of emigrants English English of the County of Suffolk whose  families tried to escape to one of the most popular sports of old England, the  ‘witch hunt’ . It is certain that entire families Englishmen, whose descendants  were later described as suffering from the disease by George Huntington to the  800, were persecuted for witchcraft, imprisoned and held to bring mental  disorders. Descendants of these families, landed in the United States in 1630  aboard the vessel John Winthrop, certainly had a similar treatment. Coreiche the  contortions of the body, typical of the disease, were considered the result of  the expression of the devil beast. ignorance rampant spasms induced by the  thought that the body would be regarded as a kind of representation of Christ’s  suffering during the crucifixion . As a result of the genetic nature of evil,  then certainly not interpreted according to scientific rules, discrimination was  addressed not only to those who suffered from it, but the whole family to which  they belong. Therefore, the disease was unmentionable and held up, by the  American Society 800 bigoted, biased and puritanical, just as “that disorder – that evil.”


The knowledge of the disease

George Huntington learned to know the disease as a child, learning the first  impressions from the doctor father and described for the first time at the age  of 22 years comprehensive synthesizing the three fundamental points: 1) the

tendency to suicide and mental disorder 2) heredity 3) the character progressively disabling . The description by George Huntington vehicle will  knowledge in civil society because he was lucky enough to be translated into  German. This allowed them to spread the name and the main clinical features, but did not represent protection from social discrimination.


G. Huntington


Racism and discrimination continue in our century

Infamous edict of 1933 of the Third Reich in Nazi Germany shows that, alone  among the neurological disorders, including conditions, along with  schizophrenia, for which it sought the sterilization forced way. Across the  ocean, an American doctor named Davenport, even in the era before, reserved,  those suffering with chorea, racist remarks equally discriminating.


The discovery of the gene (through the study of a Venezuelan family and a Neapolitan)

The real gain of knowledge must be the identification of entire families  affected by the disease in some particular parts of the world that has led to  the subsequent discovery of the gene responsible and the cause.  The most   prominent cluster of patients with Huntington’s chorea is in the area of  Maracaibo, Venezuela, where he currently resides a family of sick of  approximately 14,000 people . The origin of the spread of the disease in this  area is due to a European sailor who landed on the north coast of Venezuela in  the early 1800s, in a fishing village in the state of Zulia. Since then the  disease, genetics and transmitted to the children in dominant form, has spread  in that area causing a destruction of that population. Almost every family of  poor fishermen in one of the most neglected areas of the earth, is home to one  or more people with Huntington’s disease. Since 1979, a shipment of doctors and  researchers from the United States began to study and analyze the cases of Korea  before reaching the goal of identifying the chromosomal region in 1983 and then  the gene responsible for the disease in 1993. It is the enormous contribution  that their population has given to scientific research on the disease and is  relevant, how little known, which has contributed to the discovery of even a  family of Italian origin, resident in Naples, followed by Italian researchers  and described for the first time in 1992.


Increased knowledge is not “equal to” less discrimination

From the identification of the genetic cause now the gain of knowledge was  enormous, genetic testing allows the recognition of the disease and its cause  even before the onset of symptoms and many of the biochemical mechanisms that  account for the biological origin of evil are known. Today a formidable task  force unites researchers and specialists from around the world in the fight  against disease and many potential new drugs are being tested or are in the  process of being tested and represent a valid hope for families around the  world. Organizations, researchers and patients devote energies to the fight  against this devastating disease and in the meantime still fight against  discrimination in society is too judgmental and ignorant.