What is the National Pediatric Myoclonus Center (NPMC)?

The purpose of a national center for myoclonus is to provide the best care possible for patients whose myoclonus began during childhood. This care includes making the correct diagnosis, searching for all reversible (curable) causes, choosing the best drug treatments available, providing information about myoclonus, obtaining psychological and emotional support for the children and their families, and bringing them together with other similar families. We also wish to establish the scope of the problem and increase awareness among federal, private and pharmaceutical agencies. Patients with myoclonus otherwise have no advocate. They are often misdiagnosed, told there is no hope, feel isolated, and are in need of a concerted effort to better their situation.

History of the Center

The National Pediatric Myoclonus Center (NPMC) was founded in 1985 by Dr. Pranzatelli. In 1990 it became a full service center, largely through the efforts of its first research nurse practitioner Elizabeth D. Tate. FNP. C., MN. The membership consists of patients and their families, health care providers, educators and volunteers who support the mission of the organization. Supported by federal, pharmaceutical, institutional, and private funds, it has grown to be a referral center for the U.S., Canada, Mexico, and other countries. We appreciate the support of the Children's Miracle Network, Central Illinois.

Michael R Pranzatelli, M.D., is attending Staff Neurologist and Professor of Neurology and Pediatrics at the Southern Illinois University School of Medicine. A graduate of the Pennsylvania State University in Hershey, Dr. Pranzatelli completed his pediatric residency at Case Western Reserve University in Ohio, and his pediatric neurology training at the University of Colorado. He also completed a three-year research fellowship in neuropharmacology at the University of Southern California's Children's Hospital. He received the prestigious Young Investigator Award of the Child Neurology Society and is certified both by the American Board of Pediatrics and the American Board of Psychiatry and Neurology with special qualifications in Child Neurology. Previously, Dr. Pranzatelli was a faculty member at Columbia University in New York City and the George Washington University in Washington, D.C. He has received federal, private and institutional funding for his research on myoclonus, including a Clinical Investigator Development Award from the National Institutes of Health. The Food and Drug Administration Orphan Products Development Program has recently funded his clinical drug trials in myoclonic disorders.

Elizabeth D. Tate, FNP, C., MN, is a Research Nurse Practitioner and Clinical Instructor at Southern Illinois School of Medicine. Working part-time, she coordinates research activities and oversees the website for Opsoclonus-Myoclonus USA and International. She is a graduate of George Mason University School of Nursing and received her Masters of Nursing from the University of California at Los Angeles. As co-investigator, she helped run clinical drug trials and federally-funded investigations on OMS and fostered advocacy for children with OMS. As clinical manager, she provided a liaison between investigators, families, schools, and referring health care providers. She is an experienced clinician, a guest lecturer, and published author.

Description of Goals

Our goals are to provide comprehensive, state-of-the-art diagnostic testing and compassionate care, to build a registry of myoclonic disorders of various etiologies to support meaningful research studies, to design and promote clinical and applied basic research in pediatric myoclonus, to provide patient and physician education through the use of newsletters and pamphlets, and to encourage the organization of family support groups. No other center is dedicated to the study of pediatric myoclonus.

Types of Disorders

We evaluate all myoclonic disorders. We specialize in the opsoclonus-myoclonus syndrome and other non-epileptic forms of myoclonus, not myoclonic epilepsy. We do treat many patients with progressive myoclonus epilepsy, since they have both myoclonus and epilepsy. Because myoclonus has so many opsoclonus-myoclonus syndrome possible causes and affects children of any age, race, or ethnic background, we see a diverse patient population.

A Comprehensive Evaluation

To accomplish our goals, we have assembled experts in dozens of disciplines. Some do electrical brain wave studies (EEG and EP), sleep studies (polysomnogram), neuropsychological testing (IQ and other tests of mental function), blood tests for rare metabolic disorders and molecular genetic studies, eye examinations (neuro-ophthalmology), analysis of the chemicals and cells in spinal fluid (neurochemistry and neuroimmunology), measurement of movement (videotaping), determination of the source of myoclonus (back-averaging), and motion analysis studies of brain structure (MRI or CT scan), and advanced studies of brain function (PET or SPECT scan). Insurance companies usually cover the cost of our diagnostic evaluation, and can be contacted in advance for questions.

Sometimes we can arrange a short stay for out-of-state families in our local Ronald McDonald House, which is only a few blocks from the hospital. Call (217) 528-3314.

Patients from out-of-state may take advantage of "miles for kids" flights provided by American Airlines. Pilots donate their time to provide this service. Call (817) 963-8118.

Treatment

After you leave the clinic, all of the test results will be collected. These results will help your doctor determine the best treatment for your child. If you qualify for a clinical drug trial, the medication will be given to you together with instructions. If you live out-of-town, these materials will be mailed. We will also make arrangements for return visits to us or with your collaborating local physician.

The therapy of myoclonus is as varied as the causes. We try to reverse the underlying brain disorder. If that is not possible, we provide symptomatic treatment. Some reversible causes include infections, immunologic abnormalities, vasculitis, and certain toxic or metabolic disorders.

We draw upon medications, such as new anticonvulsants and antidyskinetic drugs, botulinum toxin injections, immunological therapies, such as IVIG, immunosuppressives, plasmapheresis, and new anti-lymphocyte therapies.

Some patients benefit from speech therapy, physical therapy, counseling, consultation with a dietitian, or dietary supplements.

Finding Solutions through Research

A modern and active research program in pediatric myoclonic disorders is necessary to improve treatment and find eventual cures. Your participation acknowledges your support for our research program and the commitment you share with us of finding better solutions to this difficult problem.

Patient Information Materials

Brochures

• The National Pediatric Myoclonus Center
• Movement Disorders
• Myoclonus
• The Treatment of Myoclonus
• Opsoclonus-myoclonus Syndrome
• Progressive Myoclonus Epilepsy

Reprints

Our center has published many authoritative medical publications on myoclonus. We can provide a list of publications, which are available at medical libraries. We also provide pertinent reprints.

Newletter

We publish two myoclonus newsletters to communicate new developments about myoclonus. The newsletters discuss common problems and solutions of interest to patients with myoclonus.

Information Sheets

Our center offers fact sheets on topics such as drugs to avoid because they worsen myoclonus, recommendations regarding immunizations and profiles on treatment options.

Videotape Session

To help educate families and health care professionals about myoclonus, we show videotapes to new patients and their families during your stay. The tapes provide an overview of myoclonus or address a specific myoclonic disorder.

Consultation Network

We also started a video consultation network for the purpose of screening videotapes of potential study subjects referred by pediatricians, neurologists, nurses, or self-referred.

Support Groups

Center participants find out about support group activities. People share their feelings about coping with myoclonus and discuss ways to communicate with friends, families, schools, coworkers, and employers about the needs of patients with myoclonus.

Public Awareness

Our National Pediatric Myoclonus Center is listed with the National Organization for Rare Disorders (NORD), the American Academy of Neurology (AAN), and the National Disease Research Interchange (NDRI). Through mailings of the Epilepsy Foundation of America (EFA), the Child Neurology Society (CNS), and journal publications and lectures, we continue to promote public awareness. For an article on opsoclonus-myoclonus, see "Friendly Fire" in Discover magazine, April 2000.