Huntington's Disease (HD)

What is Huntington's Disease (HD)?

Huntington's Disease, also known as HD, is a progressive, inherited disorder caused by defective gene on chromosome 4. It affects an individual's movements, cognition, and emotional control. HD usually appears between the ages of 30 and 50 and affects men and women equally. It is estimated 1 in 10,000 people are affected by this disease. The hallmark of HD is chorea – a type of movement disorder that causes random, writhing, involuntary movements of the head, arms, and legs.

What are the Symptoms of Huntington's Disease

The most common symptoms of Huntington's Disease are:

  • Involuntary jerky movements (chorea) of the arms, legs, and face
  • Slowing down or loss of muscle coordination
  • Loss of balance, coordination, and reflexes
  • Cognitive decline including difficulty with communication, memory, and problem-solving
  • Depression and behavioral changes
  • Mood swings, anxiety, and irritability
  • Difficulty swallowing, chewing, and speaking

What Causes Huntington's Disease?

Huntington's Disease is caused by a gene mutation on chromosome 4. This mutation causes the production of an abnormal form of the protein huntingtin (HTT). This abnormal form of the protein accumulates and causes cell damage, leading to the death of neurons in the brain. This loss of neurons in the brain leads to the symptoms of Huntington's Disease.

How is Huntington's Disease Treated?

Unfortunately, there is no cure for Huntington's Disease. Treatment focuses on managing symptoms with medications and other therapies to improve a person's quality of life. Medications for chorea include tetrabenazine, haloperidol, clonazepam, trihexyphenidyl, and other antipsychotic medications. Cognitive behavioral therapy, occupational therapy, physical therapy, and speech therapy can help improve communication and motor skills.

How is Huntington's Disease Diagnosed?

A diagnosis of Huntington's Disease is based on a person's medical and family history, physical and neurological exam, and Genetic testing. Genetic testing can confirm the presence of the mutated gene, but a diagnosis can only be made upon further clinical evidence of the disease. Early diagnosis is important to make treatment decisions and plan for the future.