Huntington’s disease
Huntington's disease is a rare, inherited neurodegenerative disorder that causes progressive damage to brain cells. It's characterized by involuntary movements, emotional disturbances, and cognitive decline.
Cause: A faulty gene called HTT, which contains an expanded trinucleotide repeat (CAG). This mutation leads to the production of a toxic protein that damages brain cells.
Inheritance: Autosomal dominant, meaning that only one copy of the mutant HTT gene is needed to develop the disease. If a parent has the disease, each of their children has a 50% chance of inheriting it.
Symptoms: Usually begin between the ages of 30 and 50, but can appear earlier or later.
Involuntary movements, such as chorea, dystonia, and gait and balance problems.
Cognitive decline, such as memory loss, impaired judgment, and difficulty concentrating.
Emotional disturbances, such as depression, anxiety, irritability, and psychosis.
Diagnosis: Based on genetic testing, family history, and physical and neurological examination.
Treatment: No cure exists, but medications can help manage symptoms, such as movement disorders, mood swings, and cognitive decline. Supportive care is also important, including physical therapy, occupational therapy, speech therapy, and counseling.
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