Orthostatic Tremor: Imagine Being Able to Walk, but Not Stand

September is Orthostatic Tremor Awareness Month. Orthostatic Tremor (OT) is an extremely rare, misdiagnosed and undiagnosed disorder affecting adults in midlife, worldwide, in a very life-limiting way. People with OT are unable to stand, but are able to walk. For more information go to orthostatictremor.org.

​​​​​​September is Orthostatic Tremor Awareness Month.  Never heard of Orthostatic Tremor (OT)?  Most physicians haven’t, let alone the general public.  But for the small number of adults who develop OT around midlife, it’s very real, very life limiting and it’s very, very hard to explain to others.

With OT, one can walk quite well at a brisk pace, but slow down or stand still, and your legs no longer hold you up!  Orthostatic Tremor means weight-bearing tremor, a high-speed muscular tremor that begins the minute one slows down or stands still and makes the legs weak and unsteady. First identified in 1970 by Dr. Elio Lugaresi and defined as Orthostatic Tremor by Dr. Kenneth Heilman (USA) in 1984, it’s been compared to riding a bicycle:  you’re fine when you’re riding along, wobbly when you slow down and unable to stand upright on two wheels.

When other people see someone with OT who is walking, they have a hard time understanding why that person can’t just stand and chat with them.  But try to explain, when no one’s ever heard of OT, and it doesn’t compute.  For people with OT, receptions, buffets, receiving lines, or any lines at all are mostly not manageable.  People with OT can also have difficulty carrying heavy items and extending their arms as in changing a lightbulb or reaching to fix something or even holding a digital camera.  Standing chores must be done, sitting, as in making a bed while sitting on it.

An obvious suggestion might be to use a wheelchair, but who would use a wheelchair when they can walk?  One instance where wheelchairs do work is at museums, especially if one has a companion to push it.  And most museums have wheelchairs to use.

Orthostatic Tremor has been confused with restless leg syndrome and it’s been called shaky legs syndrome. But mostly it’s been misdiagnosed or not diagnosed at all.

In 2000, Gloria Nelson MacWright who was newly diagnosed, created a website, Orthstatic Tremor Resource, to see if there was anyone else out there. She began hearing from others, worldwide, and over 1,100 people have now registered on the site.

During the last 15 years, thanks to the website, a core group of people with OT from around the world and all over the US and Canada, have met biennially to exchange information and hear presentations on OT at the Mayo Clinic in Rochester, MN, at the University of Nebraska Medical Center in Omaha and at a medical conference in Sydney, Australia. They have raised thousands of dollars for OT research, awarded through the National Organization for Rare Disorders (NORD) OT Research in Connecticut and the University of Nebraska Medical Center Foundation, OT Research Fund.

Dr. Diego Torres-Russotto, a neurologist with the University of Nebraska Medical Center in Omaha, is the lead investigator in a series of clinical studies he has been conducting since 2012 to unravel the origins of this little known and greatly misunderstood mobility disorder. More than 50 people are currently participating in Dr. Torres-Russotto’s project, the largest OT study ever conducted.  Dr. Torres-Russotto was featured in one of three presentations on Orthostatic Tremor at the 19th International Congress of Parkinson’s Disease and Movement Disorders, June 14-18 this year in San Diego, CA.

Neurologists Cécile Gallea, Sabine Meunier, and Marie Vidailhet recently completed a study at Movement Disorders Clinic, Pitié-Salpêtrié Hospital in Paris, funded in part by a NORD grant. Nine patients with OT received artificial stimulation of the cerebellum and while all nine showed a significant decrease in the amplitude of the tremor as measured by electrodes, the patients, themselves, did not see an improvement, suggesting that the stimulation was effective, but not enough to be beneficial.

In January of this year, NORD awarded a $33,000 grant for the study of Primary Orthostatic Tremor, made possible by donations from the OT patient community and a grant of $10,000 from Lundbeck, Inc., and its Raise Your Hand to Fight Rare Diseases campaign, to Aparna Wagle Shukla, MD, University of Florida, for rTMS Therapy for Primary Orthostatic Tremor: A
Novel Treatment Approach.

Rare disorders such as Orthostatic Tremor do not attract the kind of research funding that produces treatments and medicines that can be mass-marketed. But people with OT have found solidarity through their website, meetings and clinical studies, raising awareness in their personal networks, and raising support for smaller research projects that may someday unlock where in the brain OT originates and how to treat it.  In the meantime, they continue to walk briskly and to always be on the lookout for a place to sit!  For more information, google "Orthostatic Tremor".​

CONTACT: 
Pat Whitney 
pat@orthostatictremor.org

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Categories: Neurology, Lifestyles