IndexSymptomsMotor disordersPsychiatric disordersCognitive disordersCausesDiagnosisPathological anatomyMH stagesPrevalenceTreatmentConclusionReferencesThe World Health Organization defines Huntington's disease (HD) or Huntington's chorea as a progressive neurodegenerative disease with autosomal dominant transmission. It is also known as “St. Vitus disease”. It owes its name to Dr. George Summer Huntington, a New York doctor who first described it in 1872, then calling it 'hereditary chorea'. The word “chorea” comes from Greek and means “dance”, referring to the involuntary movements characteristic of people affected by this disease. To facilitate knowledge of this disease, we will see in sections the most significant aspects of this disease: symptoms, causes, diagnosis, pathological anatomy, stages, treatment, its prevalence and investigations for treatment. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an original essay Symptoms The symptoms of HD vary from patient to patient and also change as the disease evolves. For better understanding they can be divided into three groups: Motor disorders The characteristic medical sign of this disease is chorea or involuntary movements of the patient. As the disease progresses, movement disorders become more visible, with episodes of Parkinson's appearing in advanced stages. Also noteworthy are motor disorders such as ocular motility, ataxia, speech and swallowing disorders, as well as urinary incontinence in the final stage. Psychiatric disorders The most frequent psychiatric manifestation is depression. Additionally, personality changes, irritability, apathy, paranoia, personal neglect, and insomnia are common. Ideas about death and suicide are also frequent. Cognitive disorders Consist of impaired short-term memory and judgment; difficulties in organisation; difficulty learning new information: slow processing of thoughts. Dementia develops, leading to the inability to carry out activities of daily living. Causes Huntington's disease is clearly autosomal dominant hereditary. The affected gene that gives rise to this pathology is HTT, located on the chromosome. HTT should normally have fewer than 40 repeats of the three nitrogenous bases Cytosine-Adenine-Guanine; however, when this disease occurs, much more than 40 triplet repeats are observed. This gene codes for the protein Huntingtin, so in the presence of EH, abnormal quantities of this protein are produced which plays a fundamental role in the correct functioning of nerve fibers in the cerebral cortex. People born with this mutated gene are the ones who can pass it on to their offspring with a 50% chance. Her inheritance does not depend on sex and does not skip generations. DiagnosisThe mutated HD gene has been present in our DNA since we were born, the clinical diagnosis of the disease is usually not reached until the first symptoms are visible. If we have HD in our hereditary history and its symptoms appear, a series of genetic tests are performed to confirm the diagnosis; However, if the patient has no symptoms but is at risk because one of his parents has HD, he could be an asymptomatic carrier of the altered gene. In this case the diagnosis will be based exclusively on the genetic test. Pathological anatomy It is observable that the part of the brain most affected in patients is the caudate nucleus, a structure of the basal ganglia located in the deepest and central region of the brain. brain6, which controls motor coordination. This region tends to atrophy due to the loss of the cortex or gray matter, thus increasing the 17:1053–1063.