The neurodegenerative condition known as Huntington's disease, or Huntington's chorea, is a progressive one that mostly affects movement and cognition. The aberrant synthesis of huntingtin protein is the result of a mutation in the HTT gene. The brain's nerve cells are harmed by this protein buildup, especially those in the..
The neurodegenerative condition known as Huntington's disease, or Huntington's chorea, is a progressive one that mostly affects movement and cognition. The aberrant synthesis of huntingtin protein is the result of a mutation in the HTT gene. The brain's nerve cells are harmed by this protein buildup, especially those in the cerebral cortex and basal ganglia. As a result, a variety of symptoms that get worse with time are experienced by those who have Huntington's disease.The term chorea, which describes jerky, involuntary movements that can affect different portions of the body, is one of the main signs and symptoms of Huntington's disease. As the illness worsens, these movements—which can initially just be little restlessness or fidgeting—become more noticeable and distracting. Patients may show writhing, dance-like motions that are frequently erratic and uncontrollable. Walking, speaking, swallowing, and other everyday functions can all be impacted by cholera, which can make it difficult to communicate and eat well. Some people could find it difficult to grip objects, which could lead to frequent spills or drops. These motor symptoms can have a major effect on an individual's independence and quality of life.People who have Huntington's disease may also have a variety of additional symptoms in addition to chorea, such as: Cognitive decline: Recall, focus, and decision-making issues are frequently encountered. People may experience difficulties with reasoning, planning, and task organization as the condition progresses. Psychiatric symptoms: Huntington's disease is frequently associated with mood fluctuations, anger, depression, and anxiety. Additionally, some people might display impulsivity, hostility, or indifference. Motor skill decline: Patients may also have stiffness, bradykinesia, or slowness of movement in addition to chorea. Parkinson's disease symptoms may be similar to these symptoms.Dysphagia, or difficulty swallowing, increases the risk of aspiration pneumonia and can cause choking. Weight loss: People with Huntington's disease frequently lose weight inadvertently as a result of swallowing difficulties and metabolic abnormalities. Huntington's disease, regrettably, does not currently have a treatment. The goals of treatment are to improve quality of life and manage symptoms. Pharmacological treatments can mitigate chorea and psychological symptoms, whereas occupational therapy and speech pathology can tackle issues related to mobility and speech. In order to assess their risk and make wise decisions, people with a family history of the disease should consider genetic testing and counseling. The goal of ongoing research is to create novel treatments that will halt the advancement of Huntington's disease and eventually lead to a cure.
