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Dr. Andrew Rynne

Family Physician

Exp 50 years

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I am a 68 year old female and have a

I am a 68 year old female and have a family history of neuro muscular diseases. Mother died with ALS. Brother living with MS for approx 25 years. My sister, and I have been diagnosed with non-dystrophic myotonia congenita (chrloide channel) through genetic testing. My son has a clinical diagnosis of myotonia congenita.
Current complain is non diabetic peripheral neuropathy that has progressed very slowly over 10 + years and very rapidly over the past 3 months. After seeing prescribing MDs, I stopped two meds that were started prior to the symptom escalation. There was no change in neuropathy.
Starting about five months ago, I began occasionally experiencing swelling on the left side of my face and facial numbness 2-3 times.
2-3 weeks ago, I sensed that the neuropathy had abruptly expanded from my legs into my torso, stopping at my waist. The general sensation of neuropathy in my lower torso has stopped but I have little or no sensation when I need to urinate, nor when I urinate. In the past two days, my labia became numb. My bowel function seems unchanged. I have not fallen.
When I sensed the abrupt expansion of neuropathy into my lower torso, 2-3 weeks ago, I saw my PCP who diagnosed Gabapentin which has successfully treated the associated nerve pain. He said that my symptoms are consistent with MS but seems odd to both of us because I am 68.
I have blood work regulalry, most recently about 3 months ago. Prior to my Myotnia Congenita diagnosis, I had lots of tests that ruled out many conditions that would normally be ruled out before an MS diagnosis. I have not had a spinal tap. My last Lyme Disease test was 20-ish years ago although I spend a lot of time in the woods.
Follow up with my PCP is three weeks away. The neurologist who diagnosed myotonia congenita is 100 miles away and retiring in 30 days. I can't get in with a local neurologist soon.
The rapid escalation of symptoms, is alarming, particularly since I noticed a new area of numbness in the past few days. I am reluctant to go to an ER without an acute symptom but that may be the only way to get a work up. Do you have any thoughts about diagnosis? How should I go to an ER?
Thu, 31 May 2018
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