Tackling a Rare Disease

April 24, 2018

UH Neurological Institute’s movement disorders specialists collaborate to care for Huntington’s disease patients

UH Clinical Update - April 2018

Huntington’s disease (HD) is a rare and incurable disease that typically appears in middle age, characterized by involuntary twisting and twitching motions. The UH Neurological Institute’s Movement Disorders specialists can provide treatment to mitigate symptoms and help diagnose this inherited neurological disorder, which causes degeneration of neurons in the motor control regions of the brain.

The Huntington’s Disease Clinic opened a few years ago to serve this specialized patient population. Patients have come from near and far, including Pennsylvania and Michigan, for diagnosis and treatment by neurologists and a multidisciplinary team that includes a psychiatrist, neurogeneticist, and genetic counselor.

Many patients seen at the HD Clinic have already experienced severe symptoms that can include uncontrolled writhing and twisting movements, or chorea; parkinsonism, or slowness of movement; impaired speech and swallowing; and cognitive or behavioral changes, including depression and dementia. Some patients have mild symptoms of the disease and delay taking medication, while others are seeking information due to a family history.

“Patients with HD are seen by multiple providers in the same afternoon, allowing close collaboration and communication between providers and improving patient compliance and convenience,” says HD Clinic Director Steven Gunzler, MD, a neurologist specializing in Huntington’s disease. He is registered with the Huntington Study Group to be eligible to participate in clinical trials.

“This is a rare disease, so we’d like doctors to refer patients for a specialized consult. There are treatable symptoms. We do have medications, some on the market for years as well as some newly FDA-approved ones, which can calm the symptoms.”

Caused by a mutation in the gene that produces a protein known as huntingtin, each child of a parent with Huntington’s disease has a 50-50 chance of developing the disorder. A neurogeneticist and psychiatrist meet with each patient on their first visit to the HD clinic.

“Some people don’t know if they have Huntington’s and can benefit from a careful screening by psychiatry and neurology,” Dr. Gunzler said. “This model is built to screen for subtle symptoms. We’ve seen numerous patients who have a family history but don’t have symptoms. About 50 percent choose to be tested genetically, and it does help in family planning.”

To refer a patient for evaluation and treatment at the Huntington’s Disease Clinic, call 216-844-8685 and select the option to speak with the doctor’s secretary. If you have further questions, contact Dr. Steven Gunzler.

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