UF Health is a HDSA Huntington’s Disease Center of Excellence

The Huntington’s Disease Society of America, or HDSA, has designated the UF Huntington’s Disease Clinic a Center of Excellence. Our center provides services to Huntington’s disease patients and families in Florida and surrounding regions. At the UF Health Norman Fixel Institute for Neurological Diseases, the Huntington’s Disease Clinic is a part of our Movement Disorders and Neurorestoration Program. It includes a specialized, multidisciplinary team of medical professionals. This includes:

• Neurology
• Psychiatry
• Neuropsychology
• Neurogenetics counselor
• Physical and occupational therapy
• Speech and swallowing therapy
• Social work

Additionally, we have multiple researchers committed to providing patients with Huntington’s disease the best interdisciplinary medical care and access to the latest clinical research and experimental therapeutics.

What is Huntington's disease?

Huntington’s disease was first described by Dr. George Huntington in 1872. Huntington’s disease is a type of movement disorder. It is sometimes referred to as Huntington's chorea disease.

A rare disease, Huntington's is a progressive neurological disorder that is characterized by the development of chorea, or involuntary “dance-like” movements, that are frequently associated with behavioral, psychiatric, and cognitive problems.

What are the symptoms of Huntington’s disease?

The symptoms of Huntington’s disease are progressive. They result in the deterioration of physical, emotional and mental abilities. It is eventually fatal. Symptoms typically develop between the ages of 30 and 50. However, sometimes symptoms may occur later.

Symptoms of HD can include:

• Personality changes such as mood swings, irritability and depression
• Difficulty thinking, problem solving, impulsiveness and poor judgement
• Unsteady gait and involuntary movements, also referred to as chorea and dystonia
• Slurred speech and difficulty swallowing that may result in weight loss and malnutrition.

What is juvenile Huntington’s disease?

Huntington’s disease symptoms can also start to appear in childhood, often referred to as juvenile Huntington’s disease.

Juvenile onset HD may present differently than the adult disease. Symptoms can include:

• Stiffness
• Slowed or awkward movements
• Clumsiness
• Falls
• Speech issues

Thinking and emotional changes occur as well, and often lead to a decline in school performance. Juvenile HD tends to progress more rapidly than the adult-onset disease.

What are the treatment options for Huntington’s disease?

Treatment of Huntington’s disease requires a multidisciplinary approach. At UF Health we provide a comprehensive assessment and personalized treatment plan often including a combination of both medications and supportive therapy. Treatment is multifaceted, focusing on motor, behavioral, psychiatric and cognitive symptoms. It also includes support, education and clinical trial opportunities.

Genetic testing for Huntington’s disease

Huntington’s disease is a rare autosomal dominantly inherited disorder, meaning that affected individuals have a 50% chance of passing on the disease to their children.

For HD it takes only one copy of the altered gene to develop the disease. The gene for HD was discovered in 1983 and localized to chromosome 4, but it was not until 1993 that the HTT gene, which codes for the protein Huntingtin, and the specific causal mutation were identified. HD is caused by a mutation in the HTT gene characterized by a triplet DNA (deoxyribonucleic acid) nucleotide expansion, CAG, which encodes the amino acid glutamine. The result is a “polyglutamine” expansion in the Huntingtin protein that leads to abnormal protein deposition, dysfunction, and neuronal loss in the brain. Despite the fact the gene mutation and associated protein are known, we still do not know how mutant Huntingtin causes disease. To date, there is no cure for HD, but research is ongoing and novel treatments are actively being developed and tested in clinical trials.

If a child inherits the affected gene, he or she will develop the disease at some point in their life. If the affected gene is not inherited, then there is no risk of developing HD or passing on the gene to successive generations. The availability of a genetic test for HD allows for physicians to test persons at risk many years before they develop the disease. However, the fact that this is possible does not mean that everyone at risk should be tested. Choosing whether to have the gene test can be difficult and should be coordinated by a team specialized in HD care. Here at UF Health we offer predictive testing for HD and strongly recommend meeting first with our providers and seeking genetic counseling.

Our genetic counselor

Related specialties

Neurology