EXECUTIVE DIRECTOR

New Webinar: BEBRF will be presenting a new Webinar via Zoom, Managing Dry Eye, with presenter Rebecca Petris, Executive Director and President of The Dry Eye Foundation, on Friday, February 24, 2023 at 1:00 central time. In order to attend, you must register and then Zoom will email you a link to get into the Webinar. There are registration links on the BEBRF Facebook page, on the BEBRF Website under the ‘Events’ link then under the ‘Webinars’ link. Or you can email me at charlene@blepharospasm.org. Rebecca has spoken across the globe on many topics related to dry eye. We will continue to have ongoing Zoom Support Group Meetings. In addition, we will have a special meeting for residents of the Eastern District on Thursday, February 16th and for the residents of the Central District on Wednesday March 29th. More details are on page 14. We will be setting up a Western District meeting for April or May.

PROTECTING PATIENT INFORMATION:

The Benign Essential Blepharospasm Research Foundation respects the privacy of patients. Patient information is not shared outside the BEBRF organization.

Table Of Contents

The opinions expressed in the articles in this newsletter are those of the authors and do not necessarily reflect the views of the BEBRF, publisher of the BEBRF newsletter.

For your information, Support Group Meetings are never recorded so that participants can feel free to share. Also, every Zoom Support Group Meeting has a different link, so if you want to attend one, you must contact me in advance to receive the appropriate link. In addition to listing the upcoming Support Group Meetings in this Newsletter, they are also listed on both the BEBRF Website and Facebook page.

BEBRF attends various medical academies to raise awareness of blepharospasm and its related disorders and to inform healthcare practitioners of all the services that BEBRF offers for patients (see related story on page 11). In 2023, BEBRF hopes to attend the North American Neuro-Ophthalmology Society’s Academy in Orlando, FL in March, the American Association of Optometry Academy in New Orleans, LA in October, and the combined American Society of Ophthalmic Plastic and Reconstructive Surgery and American Academy of Ophthalmology in San Francisco, CA in November. All videos from the 2022 BEBRF Symposium in Phoenix are now available on our website. If you would like to watch them in ‘full-screen’ format, simply click the white square in the lower right hand corner of the small, inset video screen. You can find the videos under the ‘About Blepharospasm’ link and then under the ‘Videos’ link.

At the December, 2022 National Zoom Support Group Meeting, Dr. Laurie Ozelius (who is on the BEBRF Medical Advisory Board) and Dr. Nutan Sharma, both of Harvard Medical School, made a joint presentation on a new research project for which they had just gotten funding from the National Institutes for Health. This will be a five-year project on facial dystonia, including blepharospasm. As soon as they have their project set up to begin, they will need blepharospasm and other facial dystonia patients to participate. Some will be able to participate in person, but many will be able to participate remotely. When BEBRF receives all of the participation information, we will post it on our Website and Facebook page as well as reporting it in the Newsletter.

BEBRF BOARD OF DIRECTORS

Heidi Coggeshall, President/Treasurer*

Tishana Cundiff, Vice PresidentEducation & Support*

Peter Bakalor, Vice PresidentDevelopment*

Jane Boyd, MD, Vice PresidentPhysician Outreach*

Charlene Hudgins, Executive Director/Secretary

Cynthia Clark*

Robert Campbell, PhD*

Jonathan Healy

Carlas Powell*

Bryan Renehan*

EX OFFICIO

Brian Berman, MD, Advisor

*Patients

MEDICAL ADVISORY BOARD

Brian Berman, MD, Chair, Richmond, VA

Mark Hallett, MD, Bethesda, MD

Andrew Harrison, MD, Minneapolis, MN

Joseph Jankovic, MD, Houston, TX

Hyder A. “Buz” Jinnah, MD, PhD, Atlanta, GA

Laurie Ozelius, PhD, Boston, MA

Sarah Pirio Richardson, MD, Albuquerque, NM

Charles Soparkar, MD, PhD, Houston, TX

Mark Stacy, MD, Greenville, NC

Julie Woodward, MD, Durham, NC

DISTRICT DIRECTORS & EMAIL

Bryan Renehan, Eastern CT, DE, DC, FL, GA, MA, MD, ME, NH, NJ, NY, NC, PA, PR, RI, SC, VT, VA, WV dir-e@blepharospasm.org

Tishana Cundiff, Central AL, AR, IL, IN, IA, KS, KY, LA, MI, MN, MS, MO, ND, OH, SD, TN, TX, WI dir-c@blepharospasm.org

Cynthia Clark, Western AK, AZ, CA, CO, HI, ID, MT, NE, NV, NM, OK, OR, UT, WA, WY dir-w@blepharospasm.org rather than jaw closing dystonia. Tricks include touching the lip or chin, chewing gum or biting on a toothpick. Dr. Evidente showed some video examples of patients with improvements by sensory tricks. In one case, the patient’s speech was drastically improved by just holding some plastic in his mouth. The patient also held their jaw which helped. Dr. Evidente has seen more gum chewing in his practice as a sensory trick.

There is no known cause for primary or idiopathic dystonia. About 10% of patients of meige/bleph have a family history of some type of dystonia.

Other symptoms include: nasal contractions, facial grimacing, lip pursing, sucking, bruxism, tongue dyskinesia, mouth corner retraction and platysma spasms. The dystonia can cause a slurring of speech or breathing difficulty. Some have asked what is the difference between bruxism and OMD-induced jaw clenching. Bruxism (which is quite common) only occurs while sleeping versus OMD-induced jaw clenching stops while sleeping. Patients with bad dystonia get relief when they go to the sleep as most movements disappear during sleep.

Given that OMD affects the jaw muscles, patients can have muscle pain, headaches, facial pain and TMJ pain. For jaw closing dystonia, many patients seek TMJ specialists because the TMJ joints are worn down, which accelerates the arthritic process. There is no known cause for primary or idiopathic dystonia. About 10% of patients of meige/bleph have a family history of some type of dystonia. Secondary causes include drugs, neuroleptic exposure, stroke, etc.

Jaw dystonia appears in a few ways: jaw opens, jaw closes, jaw protrudes forward or jaw deviates laterally.

Tongue dystonia appears in a few ways: tongue protrusion, tongue retraction or tongue deviates towards one side.

Which JAW MUSCLES should be injected?

Oral medications may be used. He reviewed the categories and side effects. Anticholinergic drugs are best tolerated by younger patients. Examples are: Benztropine (Cogentin) and Trihexyphenidyl (Artane) and side effects include dry mouth, dry eyes, blurring of vision and others. Benzodiazepines include clonazepam, diazepam. Side effects include sedation, confusion, imbalance and dizziness. Over the last few years because they are so addictive, it is increasingly harder for doctors to prescribe these medications. For example, only one month can be prescribed at a time. It can be difficult to wean off these drugs. Muscle relaxants include baclofen, tizanidine and cyclobenzaprine. Side effects include sedation, confusion, imbalance and dizziness. Antiseizure drugs include gabapentin and topiramate. They are most effective for earlier blepharospasm but less for OMD. Parkinson’s medicines of levodopa, dopamine agonists and anticholinergic drugs may be used but best for Parkinson’s disease – related OMD. They are effective in Dopa-responsive dystonia. Neuroleptics such as haloperidol, perphenazine and risperidone can be effective for OMD but they paradoxically can cause different movement disorders of tardive dyskinesias. Some of these movements can be permanent. These drugs are used more widely now and tend to be used for depression, bipolar disorder and nausea. For Tardive Meige, some dopamine depleters/ VMAT2 inhibitors are the best drug treatment.

Dr. Evidente next showed a video of a patient with “Lubag” which is hard to treat because of the severity of the dystonia. There is a limit of how much botulinum toxin a patient can receive. In one case where the treatments were not working, the tired patient asked for a sleeping pill because of the relief he received during sleep. The zolpidem (ambien) prescribed helped this patient. It didn’t help with sleep but did help with the dystonia. He also showed a video of a craniocervical patient with sounds of a type of gasping. He had good luck with tetrabenazine with this patient as shown in the video.

For OMD, Dr. Evidente may try the drugs first because botulinum toxin is less effective with OMD. The muscles for the injections are in the chart attached. If the wrong sites are injected, it can make the treatment ineffective or possibly make the dystonia worse. He showed a variety of videos of different jaw and tongue dystonias and the muscles being injected. The Electromyography (EMG) tool helps with some patients to find the correct placement for the toxin. If a patient needs injections into the tongue but it is inserted from the inside of the mouth, the risk is high because the bacteria in the mouth that can cause an infection. Tongue dystonia injections are more dangerous because excessive weakness of genioglossus can cause obstruction of the pharynx and respiratory distress where the tongue goes back into the throat. For tongue injections, he uses the EMG and the tiniest dose possible.

Some patients have found physiotherapy helpful with exercises for the lips, jaw, tongue, cheeks, palate and facial muscles. The exercises can help reduce spasms, prevent contractures and lengthen muscle fibers. It promotes re-wiring of the brain (plasticity). Dental devices/oral appliances can also be helpful (typically via an orthodontist).

For Meige, some patients have a blepharoplasty (eyelid lift) that helped. Less toxin was required afterwards. Other surgeries are myectomy and selective neurectomy. Finally, he had some patients who did not have much success with toxin or medication but remarkable success with DBS (Deep Brain Stimulation). (But also, some patients that have not). There have not been many patients with solely blepharospasm using DBS.

DEEP BRAIN STIMULATION FOR BLEPHAROSPASM: WHAT DO WE KNOW?

PRESENTED BY FRANCISCO PONCE, MD |

Since the late 1980s, over 200,000 people have been treated with Deep Brain Stimulation (DBS), also known as neuromodulation, worldwide. This procedure is not new or futuristic. DBS has been around since 1986 and was approved by the FDA in 1997. The track record is that it is a safe, non-destructible, reversible, and adjustable therapy.

The first pacemaker for the heart was introduced in 1958. The deep brain stimulator is essentially a pacemaker for the brain: the device is implanted in the chest, just as the heart pacemaker, but the wires go under the skin, ascending through holes behind the forehead, through which electrodes enter the brain and basically tap into the circuit that goes awry with conditions such as dystonias.

Like many therapies, Deep Brain Stimulation is a product of an accidental discovery in medicine. During the early days of diagnosing Parkinson’s disease, James Parkinson noticed that a person

REPORTED BY HILLIARD KELLY PRUITT

who suffered from a stroke that affected his entire hemisphere had stopped shaking on that side of the body. This is where the idea of the role for surgery to treat movement disorders originated. That approach was refined during the 1900s from major operations to a wire that would essentially “cook” the brain. DBS is considered more of an electrical therapy for conditions like Parkinson’s and other types of dystonia rather than surgical treatment.

All movement disorders, including Parkinson’s, arise in the brain. Originally, these conditions were treated through lesions by creating a small “stroke” to disrupt the circuits causing them. DBS therapies pre-dated high quality MRI imaging, before precise detail and understanding of the cellular activity of the brain, electrophysiology, and circuitry was available. Consequently, throughout the 1990s, MRIs were not used for DBS. Procedures prior to 2012 were safe and effective, although it took a long time to pinpoint the right spot for the electrode. This required the patient to be fully conscious to provide feedback as to avoid causing irreparable damage due to a stroke. Many surgeons would only treat one side at a time due to the time commitment and patient’s level of discomfort.

The first pacemaker for the heart was introduced in 1958. The deep brain stimulator is essentially a pacemaker for the brain

Thanks to new advancements such as direct targeting using MRI, the increasing ubiquity of portable CT Scanners for image guidance, and the Entropy CT Scanner GPS system during surgery to allow on-screen viewing, beautiful imaging is available with exquisite detail of the brain’s anatomy. Coupled with decades of experience performing the operation, the procedure now just has to be implemented accurately. In just the last 8 years, DBS has graduated from being an intervention of last resort to a treatment that can be implemented closer to the onset of the condition.

These improvements have taken a lot of the guesswork out of the procedure. When MRI targeting is combined with a portable CT scanner used in the operating room, a high quality photo from the MRI can be combined with the CT scanner as soon as the electrode is placed in real time. This can be compared to the surrounding brain obtained beforehand to ensure accuracy. When MRI targeting is combined with a portable CT scanner used in the operating room, the most desirable result is achieved: the patient can now be asleep during the operation.

Treatment of dystonia by DBS, including blepharospasm and Meige, was approved in 2003 through a Humanitarian Device Exemption (HDE). HDE is allowed when a condition is rare enough that a multi-centered, randomized blind clinical trial cannot be launched in the same way they do for pharmaceuticals and medications. HDE allows doctors to perform DBS for dystonia, which suggests adequate data to provide a benefit for patients with the condition.

The FDA describes their approval for dystonia under the following labeling: “primary dystonia, including generalized and/or segmental dystonia, Hemidystonia, and cervical dystonia (torticollis) in patients seven years of age or above.” It is under this description that conditions such as blepharospasm and Meige are treatable with DBS. Medtronic is the only company that has a Deep Brain Stimulator that has been FDA approved in the treatment of dystonia. There are about 88 patients, average age of 57, that have been described in various publications as having blepharospasm, and who have undergone DBS treatment. Most participants had more than one symptom, which fits into the category of segmental dystonia. Best results for DBS for dystonia have been achieved in children and adolescents with the DYT1 mutation. The key to best outcomes come down to good patient selection, safe and accurate lead placement, and good programming.

Different conditions have different latencies to the therapy. A patient with an action tremor may see the disorder stop immediately upon the pacemaker activation.

Class 1 evidence supports that DBS has an effect on dystonia. Insuring best outcomes with Deep Brain Stimulation requires being under the care of the right neurologist, who determines patient selection, while the movement disorder specialist is trained to tease out alternative diagnoses that might not be as amenable to these types of therapies to insure a patient’s qualification as a candidate for DBS according to their experience. While the neurosurgeon’s role in treating conditions with these “brain pacemakers” on the team and journey is discreet, their purpose is to make sure this therapy is implanted safely and accurately. The task of the neurosurgeon is to find how to deliver the proven electrical therapy with the minimum possible risk. This is a surgery for quality of life, so the stakes are very high. Different conditions have different latencies to the therapy. A patient with an action tremor may see the disorder stop immediately upon the pacemaker activation. With other conditions, it could be days or sometimes weeks before any results are achieved, and will see a buildup of benefits over the course of months. The goal is to restore function, and the only way to gauge an operation’s success is if a patient can say their life has improved after six months, and they would do it again if they had the opportunity.

After decades of learning and research, a solid product is now being delivered. A new era of DBS is being ushered in. By speaking the language of the brain, using information about where the electrode is, and recording the activity within the brain, DBS will ultimately result in an intelligent pacemaker that knows where to go to maintain control. Advances in technology continue to open the door to smarter and more efficient programming through advanced control and understanding of the patient’s symptoms. While DBS is an option for blepharospasm, recommendation by a movement disorder specialist remains critical.