Table of contentsSymptomsMotor disordersPsychiatric disordersCognitive disordersCausesDiagnosisPathological anatomyHD stagesPrevalenceTreatmentConclusionReferencesThe World Health Organization defines Huntington's disease (HD) or Huntington's chorea as a progressive neurodegenerative disorder with transmission autosomal dominant. It is also known as “San Vito disease”. It owes its name to Dr. George Summer Huntington, a New York doctor who first described it in 1872, calling it “hereditary chorea.” The word “chorea” comes from Greek and means “dance”, referring to the involuntary movements characteristic of people suffering from this disease. To facilitate the knowledge of this disease, we will see the most significant aspects of this disease in sections: symptoms, causes, diagnosis, pathological anatomy, stages, treatment, its prevalence and investigations for its cure. Say no to plagiarism. Get a tailor-made essay on “Why Violent Video Games Should Not Be Banned”? Get the original essay SymptomsThe symptomatology of HD varies from patient to patient and even changes as the disease progresses. For a better understanding, they can be separated into three groups: Motor disorders The characteristic medical sign of this disease is chorea or involuntary movements of the patient. As the disease progresses, motor disorders become more noticeable, with episodes of Parkinson's appearing in advanced stages. Also worth noting are motor disorders such as ocular motility, ataxia, speech and swallowing disorders, as well as late-stage urinary incontinence. Psychiatric disorders The most common psychiatric manifestation is depression. Additionally, personality changes, irritability, apathy, paranoia, personal neglect, and insomnia are common. Ideas of death and suicide are also common. Cognitive disordersThese consist of an alteration of short-term memory and judgment; difficulty getting organized; difficulty learning new information: slowness in processing thoughts. Dementia develops and leads to the inability to perform activities of daily living. CausesHuntington is clearly autosomal dominant hereditary. The gene affected at the origin of this pathology is HTT, located on the chromosome. HTT should normally have fewer than 40 repeats of the three nitrogen bases Cytosine-Adenine-Guanine; however, when this disease occurs, well over 40 repeats of the triplet are observed. This gene codes for the huntingtin protein, so in the presence of EH, abnormal amounts of this protein are produced which play a fundamental role in the proper functioning of the nerve fibers of the cerebral cortex. People born with this mutated gene are those who can pass it on to their offspring with a probability of 50%. Its inheritance does not depend on gender and does not skip generations. DiagnosisThe mutated HD gene is present in our DNA since our birth, the clinical diagnosis of the disease is generally only reached when the first symptoms are not visible. If we have HD in our hereditary history and its symptoms manifest, a series of genetic tests are carried out to confirm the diagnosis; If, on the other hand, the patient has no symptoms but is at risk because one of his parents has HD, he may be an asymptomatic carrier of the altered gene. In this case, the diagnosis will be based solely on the genetic test. Pathological anatomy It is observed that the part of the brain most affected in patients is the caudate nucleus, a structure of the 17:1053–1063.