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Neurology (Expert Forum)
More than just RLS/PLM?
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More than just RLS/PLM?
by sgh, Jun 21, 2001 12:00AM
I'm sorry for the length of this letter. Thank you for your taking the time to read it.
I am a 35 y.o. female who was diagnosed with RLS/PLM 5 years ago. My neurologist has pulled in a variety of consultants who have characterized my case as "severe and treatment refractory". On my last sleep study(fully medicated with Mirapex, Tegretol, Trazadone) I had over 300 PLM's largely accompanied by arousals. I've had trials on ALL the dopaminergic agents, three different anti-convulsants, benzodiazepines, Zanaflex, and several opiates at various points over the last five years. None of have worked well or for longer than 3-4 months. My symptom course appears to be fairly aggressively progressive in nature. My current medication regiment consists of Requip, Depakote, Provigil, Trazadone, Maxalt, oral iron supplement, and B2. It is not particularly effective. The last attempt to remove me off my dopaminergic agent for a drug holiday resulted in extreme PLM's of such amplitude that when my 190 lb spouse would attempt to hold my legs still by laying across my legs and pressing his full body weight down on them I'd still move him.
My question though relates more to the spread of symptoms I have experienced over the last 2 to 3 years. I've developed migraines of a frequency of 3-4 times a week. I drop things fairly frequently. I fall; others have told me my gait sometimes looks wobbly (I appear to be rotating my left leg inward and stiffening it). I've developed urinary urgency and frequency. Memory is impaired. I'm a Ph.D. psychologist who often can't remember her street address anymore and despite having given hundreds of MSE's myself, have consistently made errors on serial 7's on my last several neuro exams. My neuro exams are not grossly abnormal, but I have a positive Rhomberg, considerable difficulty with tandem gait, diminished vibration sense throughout, episodic mild dysmetria observed on the finger to nose test, jerking movements and some overshoot on heel to shin test, episodic slight irregular rhythm on tapping fingers and foot on left side, mild nystagmus 20 degress to the left in the visual field, reflexes at +3 throughout, and although I often can eventually answer joint position testing in my fingers and toes I find it quite difficult to do so. Rest of exam is normal. No family history of RLS/PLM to speak of; father had scissoring gait (but the confound was that he was an alcoholic so etiology is questionable).
Aside from obviously abnormal sleeps studies my diagnostic testing has been largely normally. Brain MRI's show two small venous anginomas (cerebellum and parietal lobe). EMG testing is normal except for an isolate finding of delayed latency for right peroneal motor conduction. Somatosenory evoke response testing and EEG were normal. Testing for small fiber neuropathy, B-12 abnormality, and late onset Friedreich's ataxia were negative.
I'd appreciate any hypotheses you might have. The RLS/PLM expert consultant was quite definite in that it was more than RLS/PLM, but there appears to be little clarity as to what that might be. Everything from mitochondria disorders to hereditary ataxias has been mentioned to me. I've been told signs are subtle right now and we need to wait and see. But you see I've got a 3-year-old who has already begun to exhibit the RLS/PLM signs and I'm worried he's starting down this road I'm on already.
I am a 35 y.o. female who was diagnosed with RLS/PLM 5 years ago. My neurologist has pulled in a variety of consultants who have characterized my case as "severe and treatment refractory". On my last sleep study(fully medicated with Mirapex, Tegretol, Trazadone) I had over 300 PLM's largely accompanied by arousals. I've had trials on ALL the dopaminergic agents, three different anti-convulsants, benzodiazepines, Zanaflex, and several opiates at various points over the last five years. None of have worked well or for longer than 3-4 months. My symptom course appears to be fairly aggressively progressive in nature. My current medication regiment consists of Requip, Depakote, Provigil, Trazadone, Maxalt, oral iron supplement, and B2. It is not particularly effective. The last attempt to remove me off my dopaminergic agent for a drug holiday resulted in extreme PLM's of such amplitude that when my 190 lb spouse would attempt to hold my legs still by laying across my legs and pressing his full body weight down on them I'd still move him.
My question though relates more to the spread of symptoms I have experienced over the last 2 to 3 years. I've developed migraines of a frequency of 3-4 times a week. I drop things fairly frequently. I fall; others have told me my gait sometimes looks wobbly (I appear to be rotating my left leg inward and stiffening it). I've developed urinary urgency and frequency. Memory is impaired. I'm a Ph.D. psychologist who often can't remember her street address anymore and despite having given hundreds of MSE's myself, have consistently made errors on serial 7's on my last several neuro exams. My neuro exams are not grossly abnormal, but I have a positive Rhomberg, considerable difficulty with tandem gait, diminished vibration sense throughout, episodic mild dysmetria observed on the finger to nose test, jerking movements and some overshoot on heel to shin test, episodic slight irregular rhythm on tapping fingers and foot on left side, mild nystagmus 20 degress to the left in the visual field, reflexes at +3 throughout, and although I often can eventually answer joint position testing in my fingers and toes I find it quite difficult to do so. Rest of exam is normal. No family history of RLS/PLM to speak of; father had scissoring gait (but the confound was that he was an alcoholic so etiology is questionable).
Aside from obviously abnormal sleeps studies my diagnostic testing has been largely normally. Brain MRI's show two small venous anginomas (cerebellum and parietal lobe). EMG testing is normal except for an isolate finding of delayed latency for right peroneal motor conduction. Somatosenory evoke response testing and EEG were normal. Testing for small fiber neuropathy, B-12 abnormality, and late onset Friedreich's ataxia were negative.
I'd appreciate any hypotheses you might have. The RLS/PLM expert consultant was quite definite in that it was more than RLS/PLM, but there appears to be little clarity as to what that might be. Everything from mitochondria disorders to hereditary ataxias has been mentioned to me. I've been told signs are subtle right now and we need to wait and see. But you see I've got a 3-year-old who has already begun to exhibit the RLS/PLM signs and I'm worried he's starting down this road I'm on already.
Doctor's Answer
by CCF-Neuro-M.D.-RPS, Jun 21, 2001 12:00AM
Dear sgh:
I am sorry to hear about your symptoms. I would think that some of your symptoms are medication related. Just a personal opinion, I don't like valproate for migraine headaches. There is the chance of polycytic ovaries, elevation of testosterone, platlet problems, loss of hair, weight gain, etc. Just my opinion. What we usually will do with refractory PLMs (what was your PLM arousal index? There is no recorded PLM index with arousal in the 100's as far as I know) is to use a dopamine agonist and neurontin (we titrated the dose of neurotin up verily high without much side effect). What are they using Trazadone for? Your migraines sound like you have transformed migraine from taking medications, 2-3 per week is too many. I would think about some other migraine prophyllatic treatment. If at all possible, try and simplify your medications.
Sincerely,
CCF Neuro MD
I am sorry to hear about your symptoms. I would think that some of your symptoms are medication related. Just a personal opinion, I don't like valproate for migraine headaches. There is the chance of polycytic ovaries, elevation of testosterone, platlet problems, loss of hair, weight gain, etc. Just my opinion. What we usually will do with refractory PLMs (what was your PLM arousal index? There is no recorded PLM index with arousal in the 100's as far as I know) is to use a dopamine agonist and neurontin (we titrated the dose of neurotin up verily high without much side effect). What are they using Trazadone for? Your migraines sound like you have transformed migraine from taking medications, 2-3 per week is too many. I would think about some other migraine prophyllatic treatment. If at all possible, try and simplify your medications.
Sincerely,
CCF Neuro MD
Thank you for presenting with such clarity your's, your father's and your son's conditions. As we understood ,you have 5 years of progression of:
-severe myoclonic like movements mainly in sleep(named PLMs)
-ataxia and nystagmus,dystonic leg / myoclonic? drop attacks
-increased urinary frequency
-increasing migraine-like headaches
-progressive memory problems
Your father's symptoms are mild gait rigidity or spasticity. In contrary your 3 year old son has very early onset of extrapyramidal signs. The above picture is suggestive for genetic abiotrophic disorder with progressive dystonic/myoclonic/dementive picture plus migraine-like headaches.
The old saying is taht the best treatment is FIRST - EXACT DIAGNOSIS. My feeling is that it is a variant of the DYSTONIA/MYOCLONUS SPECTRUM and genetic laboratory in Houston or Atlanta or Salt Lake City can help you to put the right name of your genetic Autosmal Dominant Disorder with anticipation of the pathological gene.
I think the biochmical expression of above symptoms are mitochondrial leading to depletion of Dopamine(dystonia,PLMs), serotonine (migraine-like headaches) and acetylcholine(dementia). That is why until the exact diagnosis is established you may try Sinemet(by analogy of Segawa disease)to improve the dystonia, SSRI trying to increase serotonine and improve the migraines, Aricept to increase the acetylcholine and improve the cognition deficit. Carnitine, Coenzyme Q10, vitaminotherapy and especially Vit C and Vit E can be also helpful to improve mitochondria function.
Please give us an update what was done from 6/21/01 till now and keep us informed. Best wishes to you and all your family.
Yanko A. Yankov, MD, PhD
Neurologist
Sleep and Epilepsy Fellow
San Antonio, Texas
and
Mary Ann Williams, Registered
Sleep Technician
Thank you for presenting with such clarity your's, your father's and your son's conditions. As we understood ,you have 5 years of progression of:
-severe myoclonic like movements mainly in sleep(named PLMs)
-ataxia and nystagmus,dystonic leg / myoclonic? drop attacks
-increased urinary frequency
-increasing migraine-like headaches
-progressive memory problems
Your father's symptoms are mild gait rigidity or spasticity. In contrary your 3 year old son has very early onset of extrapyramidal signs. The above picture is suggestive for genetic abiotrophic disorder with progressive dystonic/myoclonic/dementive picture plus migraine-like headaches.
The old saying is that the best treatment is FIRST - EXACT DIAGNOSIS. My feeling is that it is a variant of the DYSTONIA/MYOCLONUS SPECTRUM and genetic laboratory in Houston or Atlanta or Salt Lake City can help you to put the right name of your genetic Autosmal Dominant Disorder with anticipation of the pathological gene.
I think the biochmical expression of above symptoms are mitochondrial leading to depletion of Dopamine(dystonia,PLMs), serotonine (migraine-like headaches) and acetylcholine(dementia). That is why until the exact diagnosis is established you may try Sinemet(by analogy of Segawa disease)to improve the dystonia, SSRI trying to increase serotonin and improve the migraines, Aricept to increase the acetylcholine and improve the cognition deficit. Carnitine, Coenzyme Q10, vitaminotherapy and especially Vit C and Vit E can be also helpful to improve mitochondria function.
Please give us an update what was done from 6/21/01 till now and keep us informed. Best wishes to you and all your family.
Yanko A. Yankov, MD, PhD
Neurologist
Sleep and Epilepsy Fellow
San Antonio, Texas
and
Mary Ann Williams, Registered
Sleep Technician