The questions from strangers roll right off Stephen Remillard's back—questions like "Why are you so nervous?" and "Don't you call back you'd better ease up on the caffeine?" At age 26, Remillard has faced downward essential tremor (ET)—and these sometimes obnoxious personal inquiries—"for equally long as I can remember," he says.

Stephen Remillard smiling in kitchen
Essential Tremor hasn't stopped Stephen Remillard from competing at a very high level, athletically and professionally.

Diagnosed at historic period five, Remillard is one of an estimated 10 million people in the United States with ET, according to the International Essential Tremor Foundation (IETF). Never heard of essential tremor? Possibly information technology'due south considering so many other conditions compete for headlines. Advocates for people with ET have not had the benefit of a celebrity spokesperson such every bit Michael J. Fox or Muhammad Ali, who both have Parkinson's affliction. The virtually famous person with ET was the belatedly actress Katherine Hepburn, who parlayed her disorder into an intriguing component of both her vocal and on-screen personae. Other notables with ET include retired Supreme Court Justice Sandra Mean solar day O'Connor and the late West Virginia Senator Robert Byrd, who passed away concluding summer.

Although the disease is not fatal, it tin can cause severe disability. Fifty-fifty when symptoms are mild, people with ET often feel frustrated or embarrassed past their condition, says Catherine S. Rice, M.NM. (Primary'south in Nonprofit Direction), executive manager of the IETF.

What Is Essential Tremor?

Essential tremor is a progressive neurologic status that causes involuntary rhythmic trembling of the hands, head, tongue, voice, and less often the legs or trunk. Like Parkinson's disease, ET is considered a movement disorder. The affliction is acquired by abnormal communication—sometimes called a "misfire"—between certain areas of the brain including the cerebellum, thalamus, and encephalon stem.

It is often hereditary, according to Kelly E. Lyons, Ph.D., president of the IETF and manager of research and education at the Parkinson's Affliction and Motility Disorder Center at the University of Kansas Medical Center in Kansas Urban center, KS. In fact, ET is also called hereditary or familial tremor. However, no one in Remillard's family has had ET, to his knowledge.

Tremors may exist more prominent when the person is highly active or anxious. A vicious circle can occur with ET: The person fears embarrassment in public, which in turn makes the tremor worse. As a consequence, people with ET may limit social interaction and even develop social phobia. Sometimes, observers assume the tremor is due to drug or booze intoxication.

"Essential tremor can cause meaning disability," says Dr. Lyons, who is not fond of the moniker "benign" sometimes added to the affliction, as in "benign essential tremor." "That label inappropriately minimizes its effects on many of those who take ET," she says.

In addition, tremor tends to worsen with age. Truthful to course, Remillard'southward disorder—which began in his easily, progressed to his legs, and somewhen afflicted his vox—became more recognizable every bit he matured, prompting those wise-cracking questions about caffeine. But the joke is definitely not on him. This energetic property-leasing consultant from the Los Angeles area is always on the run—literally. Remillard just finished his ninth big race, the Nov. 14 Malibu International Half Marathon: thirteen.ane miles in two hours and—so close!!—one minute.

"The bounding main-side, cliff-top path was more than difficult than I'd ever imagined," he says. Withal, ET clearly hasn't stopped Remillard from competing at a very loftier level, athletically and professionally. "I've lived with ET and I'grand able to 'command' information technology," he says, even without medication. "I'chiliad a pretty confident person, always seeking ways to overcome limitations. I make do with nearly situations I'k presented with, and I'm able to exercise anything anyone else can practice."

Not That Bad—or Is It?

Remillard takes pride in beingness neither a complainer nor a whiner. Merely health intendance professionals really wish more people with ET would speak up about their status.

"It's clear from studies that the bulk of patients have non been to a dr. or diagnosed," says Rodger J. Elble, Thou.D., Ph.D., manager of the Parkinson's Disease and Movement Disorders Middle at Southern Illinois Academy School of Medicine in Springfield and an IETF medical advisory board fellow member. The reason may be that the condition is initially mild—in fact, ET may remain mild for decades—or because a family unit fellow member has ET and relatives go used to it, Dr. Elble says.

"Frequently as patients approach retirement or tardily center age, the tremors become more than noticeable," he says. "Other people may develop tremor late in life—afterwards age 65."

Many in this age group may have ET and just not know information technology—they simply call up tremors are due to age. Statistics show that in the general population, occurrence of ET is close to 1 pct, says Dr. Elble. "Only if yous analyze people 65 and older, the number is 5 percent."

"Unless people are appropriately diagnosed we tin can't help them," says Rice. "In many cases the tremor is progressive and will get worse. You lot may lull yourself into thinking, 'It doesn't bother me and isn't life-threatening,' but I know x more people who can't write, feed, bathe, or apparel themselves. Their quality of life is severely impacted."

Normally Misdiagnosed

Essential tremor tin be easily misdiagnosed as another move disorder, nigh frequently Parkinson's disease. Essential tremor actually occurs 8 times more often than Parkinson's. A handwriting examination is ofttimes used to distinguish between the two, says Dr. Lyons. "Essential tremor often results in large, shaky handwriting samples. Parkinson's writing typically starts out normal, and then gets smaller and smaller."

Tremors of the voice and caput also do not generally occur in Parkinson'southward merely are normally seen with ET. A patient suspected of ET should exist examined while in a reclined or seated position with complete body support.

Dystonic tremor is also often confused with ET. Patients with dystonia showroom an abnormal, involuntary spasm or contraction of muscles in the confront, neck, paw, or torso. When muscles aren't used, they normally relax. With dystonia they practise not, resulting in abnormal postures.

Full general neurologists treating tremor accept a diagnostic fault rate of 25 percentage to 35 percent. "There is no laboratory test for ET, no biological mark to diagnose it," Dr. Elble says. "Diagnosis is made by careful history and exam."

Medications and Research

Several men and women with essential tremor
PHOTOS COURTESY OF THE INTERNATIONAL ESSENTIAL TREMOR FOUNDATION

I New York-based study showed only 8 percent of patients had really been prescribed medication for tremor. Furthermore, patients who try one or more medications for treatment usually find them to exist less than satisfactory. No medication has been specifically adult to treat ET.

"If a adept, relatively inexpensive, and safe treatment were available, a lot more people would accept it," says Dr. Elble.

For approximately threescore percent of patients, medications are available that might help alone or in combination, although "some patients will non respond at all," says Dr. Elble.

Experts consider the all-time medications to be propranolol, an FDA-canonical beta blocker, and primidone, an anti-epileptic, according to Dr. Elble. The anti-feet medications clonazepam, diazepam, lorazepam, and alprazolam, and the anti-convulsants gabapentin and topiramate, have also shown some benefit for ET.

"Most experts agree that primidone is the most effective treatment for ET, followed by propranolol and other beta-blockers," says Dr. Lyons. "If tremor is not sufficiently controlled with one of these medications, the two can be used in combination. If these medications do non command tremor or cause intolerable side effects, then gabapentin or topiramate are probably the side by side near usually tried medications. Benzodiazepines are also used, particularly if anxiety is likewise an upshot, but the potential for habit should be considered."

According to IETF, new medications being tested for effectiveness and safety in the treatment of ET include 1-octanol, sodium oxybate, T2000, and carisbamate. (Learn more than about "Enquiry into Essential Tremor" below.)

In addition to medication, people utilise a combination of creativity and tenacity to cope with ET. Using the tremor-free hand helps with completing tasks, as does holding one'southward chin to the chest to control head tremor. Stress reduction also plays a vital role. (Encounter the all-encompassing list of "Coping Tips" on the IETF Web site.)

Meanwhile, current research focuses on finding the gene that causes ET. In many large families, the condition appears to be dominantly inherited—that is, at that place's a 50-l hazard each child has information technology. In inquiry reported in April 2010, one particular gene (the LINGO1 gene) was found to be associated with increased risk of ET.

However, "LINGO1 is non a 'Mendelian dominant trait,' in which inheritance of the gene determines disease," says Dr. Elble. In fact, LINGO1 is only associated with an increased risk of ane.iii to ane.5. Finding a dominantly inherited cistron is viewed by experts as crucial to finding a cure.

"We practise not have a shortage of interested researchers out there," adds Catherine Rice, of the IETF. "Only there aren't enough researchers looking merely at ET. We want to fund the research to help detect the cause of essential tremor."

It Is Brain Surgery

"I plow myself off when I go to bed and back on every morn," says 60-year-one-time Shari Finsilver of Orchard Lake, MI. She manages ET with a "brain pacemaker" device that delivers electrical stimulation to her brain. The therapy is known as deep brain stimulation (DBS).

"In general, essential tremor is the simplest of diseases we treat with DBS," says Joseph Neimat, M.D., M.S., neurosurgeon at Vanderbilt University in Nashville, TN.

"It is a single, prominent symptom that responds very well to intervention. We can see effects almost immediately—and it is probably effective in ninety percent of patients." [Disclosure: Dr. Neimat says, "I take done some very limited consulting for Medtronic, a manufacturer of the device, for a few hundred dollars. I have also done a modest amount of teaching for Medtronic and some other company that makes frames for the device—again, for a small-scale fee."]

Finsilver is a past president of the IETF and current executive board member, and she has get a spokesperson for seeking diagnosis and treatment of ET. Considering herself lucky to have been diagnosed immediately by her neurologist at age xix, Finsilver says the procedure "has been the life-changing solution that medication could non provide."

In her 40s, she'd had plenty of her tremors and of medication side furnishings. "With i drug, I couldn't lift my head up off the pillow."

Finsilver couldn't write, draw, or apply eye-makeup due to her uncontrollably shaking hands. One wonderfully fateful mean solar day in 1996, her sister called, ecstatic nearly a Boob tube news report she'd seen on DBS.

The concept of brain surgery doesn't resonate with anybody, though. "In that location are hurdles every patient has to get past," says Dr. Neimat. "Many people have an internal prohibition to having someone open up their head."

Finsilver took her time to acquire well-nigh DBS and finally underwent the procedure at Henry Ford Hospital in Detroit, MI, in February 1999. Before doing so, this grandmother of five with a master's degree in industrial and operations engineering taught herself relaxation. She experienced few problems, even with the notorious "halo." This metal frame immobilizes the head with four screws and allows mapping of the brain "target."

With use of only topical anesthetic, holes are drilled into the head and an electrode is placed in the encephalon. Wires running below the scalp connect to a pulse generator—this is the "brain pacemaker"—underneath the skin of the upper chest. Full general anesthesia is used for the last stage of the surgery.

Since 1995, more eighty,000 patients have received DBS. As a result of surgery, certain types of hemorrhage may occur in one to v per centum of patients, seizure in iii.1 percent, and confusion during the recovery period in 1 to 36 percent, according to the new book, Deep Brain Stimulation Management, edited past William Marks Jr., (Cambridge Academy Press, 2011). Among device-related issues, infection may occur in 3 to x percent; peel erosion in 2.5 to 6.45 percent; and fractures, migration, or malfunction of device parts in 5.1 to xviii percent.

The procedure itself is about "location, location, location," explains Dr. Neimat—specifically, targeting the right spot in the thalamus. This fragile substructure of the brain relays sensory data to the cerebral cortex, which is responsible for processing information and for language. The specific expanse of the thalamus targeted for ET is densely packed against other of import areas that provide sensation and carry motor fibers. Inadvertent stimulation of these other areas may produce their own effects in the body. For example, a patient might experience tingling when the system is turned on or musculus contractions if turned up too high. If an electrode isn't in exactly the correct location, oral communication problems tin occur.

Following insertion, both doctor and patient must brand friends with the device, which requires "tweaking" to optimally conform stimulation. This getting-to-know-you lot period requires patience from both parties.

However, the future holds great promise for the technology, says Dr. Neimat. Already, newer systems feature rechargeable batteries that terminal longer, allowing for more patient-administered preprogramming. "Smart machines" will eventually measure the tremor and adjust maximally to reduce it, he says.

Deep brain stimulation is approved in this country for treatment of ET, Parkinson's disease, dystonia, and obsessive-compulsive disorder. Ongoing studies hither and abroad are testing DBS for severe depression, anorexia, severe epilepsy, Tourette syndrome, obesity, and early on Alzheimer's disease.

Finsilver, of contagious good spirit, is not agape to share what she originally kept clandestine. She formed an in-person and online tremor back up group in 2001; in doing then, she realized that for years she had hidden both herself and her illness. Although she'south moved on from the group, she thanks those friends she fabricated who encouraged her to proclaim: "Stuff information technology!! This is who I am."

She has few regrets. "I've e'er said I'd do DBS once more," Finsilver says, admitting that what's done isn't always finished. She's endured having to supercede "a wire with bad insulation that shot electricity through my body." And recently a different wire bankrupt. Batteries must exist changed every iii to 5 years, requiring minor incision nether local anesthesia.

Those patients who thrive after DBS know that almost everything requires a little maintenance to proceed it working optimally—fifty-fifty a brain.

Essential Tremor: The Basics

  • Essential tremor (ET) is a neurological movement disorder that causes the easily, head and phonation, and sometimes the legs and trunk to shake.
  • Approximately x one thousand thousand Americans accept ET.
  • Each kid of a parent with the ET has a 50 pct risk of inheriting a gene that causes the disease, though people with no family history of tremor may also develop ET.
  • Parkinson's disease and dystonia are the about common misdiagnoses for ET.
  • Essential tremor is frustrating, embarrassing, and at worst, disabling.

The Faces of ET

Essential tremor affects people from all walks of life and is not confined to the elderly. Children, adolescents, and immature- and middle-aged adults can too have ET. Even newborns have been diagnosed with the status.

The International Essential Tremor Foundation sends a free information parcel most ET upon request, maintains a list of physicians specializing in ET, and assists with forming ET support groups. Members also receive the fellow member mag, Tremor Talk.

Essential Resource

Tremor Talk magazine

  • International Essential Tremor Foundation
  • IETF'south Tremor Talk web log
  • International Parkinson and Motion Disorder Society

Research into Essential Tremor

The lack of major research initiatives remains a conundrum for patients and advocates. Studies go along into a type of booze, 1-Octanol, that provides tremor reduction while avoiding intoxication, according to Dr. Lyons. "Currently, information technology'due south probably currently the nearly promising pharmacologic treatment being studied," she says. "i-Octanol is currently approved by the FDA as a food condiment and occurs naturally in citrus oils."

For a list of electric current trials, visit IETF's research recruitment Web site.

In addition, on Dec. eight, 2010, The U. S. House of Representatives formally passed Firm Resolution (H.-RES.) 1264, sponsored by Congressman Dennis Moore (Third District—Kansas), officially designating the Month of March as National Essential Tremor Awareness Month. "Information technology was a landmark twenty-four hour period," said IETF'due south Catherine S. Rice. Hopefully the designation will assistance advocates raise money for awareness and research.