Multiple Symptoms

[Ronnie]

I have an undiagnosed neuro-muscular (?) disorder, with Myoclonus as a major symptom. It seems to have a definite pattern. The "standard" movement: my neck jerks downward abruptly toward my right shoulder, never to the left. Sometimes my left arm flings outward in the opposite direction at the same time the neck moves. The arm does go to the left. At this time, I would call them "mild". In the past year they have been "violent", especially at night just before sleep sets in. I would be facing in one direction and the jerk would fling my face to the opposite side, or move my body up on the pillow, toward the head of the bed. They sometimes would manifest during the day, usually at rest, but they could also appear during movement. I could be leafing through a magazine and the spasm would nearly rip the page out. I also had severe double vision for three months in 1998 before it went away. I have not been able to work since March of 1998, and this year I could not even garden. I always use a cane and sometimes need two when my legs collapse. The mildness of the myoclonus at present seems related to my inactivity. Any period of exertion triggers it again. Extreme fatigue is another symptom, as well as extreme intolerance to heat. The VA has diagnosed CFS by elimination (no specific tests) but I don't have any pain at all, and the myoclonus doesn't fit in.

There is a different occurrence when I walk. Something "catches" in my upper back... no pain is ever involved... I pause in mid-stride, the left arm flings outward. Sometimes my legs refuse to take a step... other times they have jerking movements of their own.  I have also had two or three episodes of my entire body "writhing". This would last maybe ten minutes. Sometimes my hand or forearm will "curl" up and remain contracted for a few minutes, and I can't make them unclench. I do have a herniated lumbar disk, but again, no pain is involved, so it doesn't seem to be a factor.  I've also had Type 2 diabetes for 6 years, but do not believe it is a factor, unless some other metabolism problem involved.

Do you have any ideas on how to proceed with diagnosis? What kind of doctor? I have had MRIs, lumbar puncture, and an EEG... all normal.

[CCF Neuro[P] MD, RPS]

Dear Ronnie:

Sorry to hear about your problems.  It is difficult to tell you why your having the events you describe with a normal MRI and EEG.  With large violent-like movements we think as a vascular event effecting the subthalmus or some event effecting the basal ganglia.  Tissue changes should be picked up on the MRI scan.  Since your EEG is normal, cortical events are likely not involved.  There are natural mild myoclonic-like events that occur just before going to sleep or upon awaking but these are not violent.  Usually with chronic fatigue syndrome (CFS?) we also do not see violent movements.  I am sorry to say that I am puzzled. The best I can offer is thay your having some type of dystonic movements.  I am assuming that your neurological exam is completely normal as you did not mention any abnormalities.

Sorry, I can't help you.

Sincerely,

CCF Neuro MD

[Ronnie]

As far as I know, the neurology reports were normal. At least nothing was pointed out to me.

I approached diagnosis through the VA at first (1996), since I didn't have any insurance. They did several tests, including the MRIs. The shelf-type Open MRI in May 1998 seemed to indicate an acoustic neuroma near my left ear, but a subsequent one (tunnel type) in July 1998 at the VA Hospital was normal. I was having the shoulder twitches during the EEG and the technician said there was no brain activity showing up with it. They gave me Sinemet for the twitches  (which didn't help), said it was restless leg syndrome, and sent me home with no further testing. The local VA lost interest after that and diagnosed chronic fatigue syndrome, for lack of anything else to call it. I do have some of its symptoms, but would not meet CFIDS criteria for DX. I'm a Vietnam Vet, so there may be some possibility of Agent Orange, but I was not in direct contact with it, and that was thirty years ago. (I did spend two years there instead of the normal one-year tour.) I've had no other chemical exposure, except for the normal glues and lacquers associated with cabinet making.

Since the neurologist was at my own expense I could not afford extensive testing. He did the lumbar puncture to determine MS, but no demyelinations showed up and he also seemed to lose interest after that. I've read that people can have MS for years before it shows up on the machines, but with the symptoms I have, any possible MS should be visible by now. My family doctor insisted on another MRI last year (via credit card); it too was normal. Also, to cover all bases, I had asked to see a psychiatrist at the VA; they thought it to be a neurological problem and said I should pursue that course. But I live in a small town, and the nearest VA, in a slightly "larger" small town, does not have a neurologist, and to get to the Hospital, the primary-care doctors have to pretty much diagnose the neuro problem themselves before a patient can be referred to the bigger one.

SS Disabilty has offered Medicare insurance now, so I've started searching for answers again, mainly on the internet... Mitochondrial disorders, genetic diseases, glucogen storage, etc. I came upon your site just recently and searched the archives first, but no clues. I really appreciate you taking time to respond and I apologize for the length, but it's not an easy thing to describe... nor to have, for that matter!

[ellenc]

Ronnie, I have no answers, but just wanted to let you know that I have been going through Neuro-type problems for a year, and I really empathize with you. And at least I live near a BIG city and have had every conceivable test paid for through insurance. My heart goes out to you. Good luck .