Clinical Case: A young man with abnormal movements, tremors, and normal test results
This week’s episode of the BrainWaves podcast features a case discussion regarding a young man who presented with rapidly progressive lower extremity weakness, tremors, and pain. I’m joined by Dr. Kathrin LaFaver for the discussion, who works at the University of Louisville and specializes in movement disorders. As you’ll hear in the show, much of the assessment for patients with a movement disorder, like tremors and weakness, is purely clinical. There’s not always a diagnostic test or neuroimaging sequence that will give you more information than your clinical gestalt. More often, in cases like this patient, the history and physical assessment is all you need.
The patient was a 22-year-old junior high football coach who presented with acute and rapidly progressive bilateral leg numbness, back pain, and leg weakness in March 2016, and was diagnosed with Guillain-Barre Syndrome. (The patient’s name is Jason Lindsley, and he graciously agreed to share his story with us for the show this week). The diagnosis of GBS was based solely on clinical grounds given the back pain and rapidly ascending weakness (despite normal reflexes). Initial lumbar puncture and neuroimaging were normal, his NCS/EMG on admission (within a few weeks of symptom onset) were unremarkable as well. In addition to leg weakness, he developed tremor in his legs when attempting to move them out of a sitting position and tremor in his hands. He was treated with IV Ig and sent to a rehabilitation hospital with no significant improvement. He got a second opinion and was told combinations of “we don’t know” or “I guess we’ll find out what it is at autopsy.”
As far as the documented clinical assessment goes, there was a discrepancy, or variability, between having essentially normal strength on direct muscle testing in a seated position, but inability to initiate walking when standing. The way he used crutches to ambulate was quite unusual, he swung both legs forward at the same time while only supported by crutches in “tripod” fashion, something that required a great deal of trunk at arm strength and good balance. This lack of awareness in functional strength is often referred to as distractibility, which can be assessed with other clinical assessments and requires a keen eye. Lastly, there were large amplitude, involuntary movements in his lower extremities when he would move his legs while in a sitting position, but not while standing, a pattern not consistent with organic tremor presentations.
Acuity, Variability, Distractibility. When you see these 3 features, they should raise your suspicion of a functional disorder–or a problem not
attributable to a lesion or defect in the nervous system, but more of a problem with the communication or signaling between nerve cells that results in an impairment in neurologic function. Ultimately, the patient was diagnosed with a functional movement disorder (FMD). Yet, in spite of this new diagnosis and following several evaluations by psychiatrists and psychologists, he made no clinical improvement over the next 9 months. Unfortunately, a diagnostic delay in FMD is quite common, and patients often have trouble finding a physician comfortable taking over their care, as many get shuffled from neurologists to psychiatrists and back. This stems from several factors, one being the hesitancy of providers in making a diagnosis of FMD and the repercussions of missing an organic, or tissue-based, neurologic illness. There remains the sense that functional disorders are a “diagnosis of exclusion”, although positive features have been defined to allow a “rule-in” rather than a “rule-out” diagnosis.
Luckily for him, his mother’s perseverance brought him into the care of a functional movement disorders specialist, Dr. Kathin LaFaver, via communication with other specialty providers through www.neurosymptoms.org. He was evaluated in Dr. LaFaver’s interdisciplinary FMD clinic in Feb 2017 and underwent the one-week inpatient rehab program with dedicated treatment for his condition that next month. During his stay at the Frazier Rehab Institute, he learned how to regain normal motor control and has made a complete recovery. He has been able to maintain his treatment success for over 6 months now, is back to coaching football, has moved out of his parents’ house and resumed his College education.
Patient education is a crucial first step in getting patients to accept the diagnosis of a functional disorder and starting them on the way of recovery. It is helpful to mention the possibility of a functional disorder at the first visit to the patient as part of the differential diagnosis when appropriate. Discussions with patients should be straight forward and honest, naming the condition and explaining that this is a common problem to deal with. It can be very helpful to demonstrate some of the signs on physical exam that were helpful in establishing the diagnosis. Speculation about underlying psychologic factors is often not helpful in the initial patient encounter. A general optimistic attitude is appropriate and patients should be reassured that improvement and even recovery of normal neurologic function is possible, although a small proportion of patients will remain chronically disabled. Treatment needs to be undertaken by therapists familiar with FMD, otherwise the interactions can be counterproductive. At the Frazier Rehab Institute, where Jason was treated, a multi-disciplinary care team conducts an intense, one-week inpatient treatment program with good success for the majority of patients. Over 70% of patients make a full or nearly full recovery, and many of them remain in remission from their illness over the long-term. It is also very helpful to have patient organizations and websites for public information available such as www.neurosymptoms.org and www.fndhope.org.
The BrainWaves podcast and online content are intended for medical education and entertainment purposes only. Information presented should not be used to guide routine clinical decision making.
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Drs. LaFaver and Siegler would like to thank Jason Lindsley for sharing his story on the BrainWaves podcast.