Movement Disorders

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Huntington’s Disease

Huntington's Disease (HD) is a genetic neurodegenerative disorder that causes the progressive breakdown of nerve cells in the brain, leading to a decline in motor control, cognitive function, and emotional regulation. It is caused by a mutation in the HTT gene on chromosome 4, which leads to an abnormal version of the huntingtin protein. This protein accumulates in brain cells, damaging them over time.

Causes

Huntington's Disease is inherited in an autosomal dominant pattern, meaning that an individual only needs one copy of the faulty gene from either parent to develop the disease. The mutated gene contains an expanded repeat of the CAG trinucleotide sequence, resulting in a protein that is longer than normal, which interferes with cellular function. The number of repeats correlates with the age of onset and severity of symptoms.

Symptoms:

Symptoms usually appear between the ages of 30 and 50 but can develop earlier or later. The main symptoms include:

  • Motor dysfunction: Involuntary jerking or writhing movements (chorea), impaired coordination, muscle rigidity, and difficulty swallowing and speaking.
  • Cognitive decline: Problems with memory, concentration, and decision-making. Over time, this can progress to dementia.
  • Psychiatric symptoms: Depression, anxiety, irritability, and mood swings. Some individuals may also experience impulsivity, aggression, and obsessive behaviors.

Treatment:

There is currently no cure for Huntington’s Disease, and treatments mainly focus on managing symptoms. Medications like tetrabenazine can help control involuntary movements, while antidepressants and antipsychotics may be prescribed to manage psychiatric symptoms. Physical therapy, occupational therapy, and speech therapy can aid in improving quality of life and maintaining function. Research is ongoing to explore potential disease-modifying therapies.