QuestionI am a 63 year old female with a recent diagnosis of Periodic Paralysis (for years was misdiagnosed with MS), the genetic code was not found, but the symptoms are closest to Andersen-Tawil Syndrome (ATS). An ATS specialist says that my type is unique to me and my family. My main symptoms are full body, flaccid periods of paralysis in which I am unable to move in any way, including, not being able to speak or open my eyes. I am able to hear, however and know everything going on around me. I have breathing problems, choking and heart arryhthmias including long QT and tachycardia and blood pressure highs and lows during them. They can last from 15 minutes to 7 hours.
I have become totally disabled between episodes...muscle weakness, exercise intolerance, have a specialized wheelchair so that I sit in a reclined position, because even sitting up straight in a chair is too taxing on me. I am on oxygen therapy 24/7. I can take no medications, except potassium for the potassium shifting to avoid the episodes of paralysis.I get them from potassium shifting low, high and even in normal ranges.
I have 4 specialists and all of them have told me they can do no more for me. I have a new PCP.
My question is this: I am not sure where to turn. 2 days ago, I got some medical records from a neurological clinic I went to about 2 years ago....an amino acid plasma study had been run....I also had a muscle biopsy done at the same time...The doctor seeing me was transferred in the middle of the process. I was told by another doctor that all my tests were normal..no sign of mitochondria or metabolic disease. It was another year before I got my diagnosis.
The amino acid study came back abnormal....low aspartic acid and 3 methylhistidine, and very high proline, alanine, valine, tyrosine, homcysteine, and pyruvic acid.
No doctor had addressed this and I don't believe any of them actually saw it except the doctor that ordered it and then left.
The results said: "Hyperalaninemia suggests primary or secondary lactic acidosis or hyper ammonemic syndrome. Further work-up warranted.
Hyperprolinemia is consistant with secondary mitochondrial dysfunction or may indicate type I or type II Hyperprolinemia. Further analysis may be warranted.
Recommend measurement of blood lactate and repeat of plasma amino acid analysis."
No repeat was ever done and no blood lactate measurement was done.
Is it possible that all of my symptoms are possibly untreated lactic acidosis? Or has the Periodic Paralysis (a metabolic disorder)caused these conditions? Or is there a chance I have another metabolic disturbance and Period Paralysis? I am not sure which of my specialists to ask about this or if I should go to an endochrinologist.I am assuming I need the test redone. I have gone downhill quite significantly since that test.
I realize this is a complex situation, but I need some help with who I should turn to about this issue.....
AnswerYes, this is a rare complex situation.... I would be guessing, but if you came to see me in my office, I would be on the phone to a premier neurologic clinic, probably at a medical center.... I have used Duke, Emory and Winston Salem (Bowman Gray) around here... I am in SC, but any good neurology clinic at a teaching institution....... get your primary to make some calls and get back to a super sub speciality clinic where the doctors have seen this as opposed to me, just reading about it..... I hope this helps.....
