Two Years Without Official Diagnosis

[Mary__0__0]

  I have had progressing symptoms for almost two years, and the only abnormal result my physician can find is an elevated protein level (59 mg/dL) in my spinal fluid.  The physician performing the spinal tap did not remove enough fluid to determine the type of protein, and I had such a severe reaction to the spinal tap that I am hesitant to undergo another one.  My symptoms started out as severe aching and throbbing in my lower arms.  This was my only symptom until eight or nine months ago when the same type of pain affected my lower legs.  The pain never progresses past my elbows and knees.  It is severe, excruciating pain that never ends. About the same time the leg pain started, I developed occasional blurred vision, severe headaches with nosebleeds (headaches come in clusters, then disappear for several weeks), a feeling of "rushing water" in my head and aching in my left ear.  I am having trouble thinking clearly and remembering things, and my arms and legs are abnormally fatigued.  On some days I can only walk short distances before I need to sit down, as my legs seem to be so fatigued that I cannot go on.  My muscles seem to get sore for no apparent reason, and I have muscle twitches dozens of times a day.
  My physician has tested me for practically every antibody relating to autoimmune illnesses, and the tests have all come back negative.  I have had surgery for carpal tunnel syndrome on both hands, even though my EMG tests came back negative (twice!).  The carpal tunnel surgery relieved my arm pain for about a month, then it came right back again.
  I am having a biopsy done next week for Amyloidosis, and after that I am going to suggest an MRI of my brain.  
  I have a cousin who died of ALS - I told my doctor this, but he says I do not have ALS.  Are there any other illnesses we are overlooking?  Any illnesses associated with increased protein levels in the spinal fluid? I appreciate you taking the time to answer my letter.  Thank you very much.
Dear Mary:
Sorry to hear about your problem.  It is very frustrating when you know that your having symptoms but none of the tests have shown anything.  One thing that your physician might think about is mitochondrial disease.  They can give you the symptoms that you describe yet have no findings on the usual tests that we neurologist will ask for.  The laboratory work up that might give a suggestion of mitochondrial disease is the following: lactate, pyruvate, ammonia, serum and uring organic acids and amino acids, and serum and urine acylcarnitine and carnitine.  If any of these test show an abnormality suggesting a mitochondrial disorder than a muscle biopsy to test for oxidative phosphyloration and electron transport chain abnormalities.  I hope that you find what is going on in the near future.
Sincerely,
CCF Neuro[P] MD