Huntington’s disease is a neurodegenerative disorder that affects the brain and nervous system. The disease is characterized by muscle movements, cognitive decline, and behavioral changes.
Huntington’s disease is caused by a mutation in the Huntingtin gene. This gene encodes for the protein huntingtin, which is involved in neuronal development and function. The mutation in the Huntingtin gene leads to an expansion of a repetitive nucleotide sequence, which results in the production of an abnormal huntingtin protein.
The abnormal huntingtin protein causes damage to neurons in the brain, which leads to the symptoms of Huntington’s disease. There is currently no cure for Huntington’s disease, but there are treatments available to manage the symptoms of the disease.
Symptoms
Huntington’s disease is a progressive brain disorder caused by a single defective gene. The symptoms of Huntington’s disease usually develop gradually between the ages of 30 and 50, but they can occur earlier or later. Early symptoms may be so mild that they are not noticed. As the disease progresses, it causes involuntary movements called chorea, mental deterioration, and emotional disturbance.
Huntington’s disease is characterized by three main types of symptoms: motor, cognitive, and psychiatric. Motor symptoms are the most visible and include uncontrolled movement of the face, arms, legs, and trunk; slowed movement; and impaired coordination. Cognitive symptoms include memory loss, impaired judgment, and difficulties with thinking and problem-solving. Psychiatric symptoms include depression, irritability, anxiety, mood swings, personality changes, and suicidal thoughts.
Causes
Huntington’s disease is a hereditary condition that causes the progressive breakdown of nerve cells in the brain. The disease typically begins in middle age, but it can occur earlier or later in life. Huntington’s disease is caused by a defective gene that is passed down from parent to child. The defective gene leads to the production of an abnormal protein called huntingtin. This protein damage nerve cells in the brain and other parts of the nervous system. Huntington’s disease can affect people of any ethnic background, but it is most common in people of European descent. There is no cure for Huntington’s disease, but there are treatments that can help manage the symptoms.
Diagnosis
A diagnosis of Huntington’s disease is based on a person’s family history, signs and symptoms, and results of tests. Huntington’s disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). It is caused by a defective gene that is passed down from parent to child.
Treatment
There is currently no cure for Huntington’s disease, however, there are treatments available that can help to manage the symptoms and extend life expectancy. The most common symptom of Huntington’s disease is involuntary movements, known as chorea, which can be treated with medication. Medication can also be used to help with other symptoms such as depression, anxiety, sleep disturbances and weight loss. There is also a surgical procedure known as deep brain stimulation (DBS) which can help to reduce the severity of chorea.
Living with Huntington’s Disease
People with Huntington’s disease often have a hard time taking care of themselves and need help from family and friends. If you have Huntington’s disease, or if you are at risk for the disease, it is important to learn as much as you can about the condition. Knowledge is power, and understanding the disease can help you make informed decisions about your treatment and care.