• Stephanie

    Member
    August 31, 2020 at 12:37 pm

    Hi Michael.  I’ve been working with my dad to get a diagnosis for what we understand is respiratory onset ALS, which we received at the Mayo Clinic in Rochester MN in July this year.  The EMG at Mayo didn’t reveal anything related to ALS but I understand from the neurologist that this isn’t unusual as there are very specific things that have to be looked at in an EMG for it to reveal information consistent with ALS.   The key symptom that convinced the Mayo neurologist that my dad has ALS is extensive muscle twitching (fasciculations) in his arms and legs.  He also has symptoms like significant weight loss (40 pounds in 8 months); loss of strength in hands, arms, and legs; loss of energy; and loss of vocal strength in addition to both sides of his diaphragm being significantly elevated and weakened.  The diaphragm issues were diagnosed by a combination of pulmonologist and neurologist through a standing and laying SNIFF test and MRI.  My dad has extensive nerve damage in his spine, which made diagnosing the diaphragm issues and ALS more difficult.  We’ve transitioned to an ALS Association Certified Center both for local care and another opinion.  Interestingly, they are evaluating my dad for Kennedy’s disease, also known as Spinal Bulbar Muscular Atrophy (https://www.kennedysdisease.org/), another motor neuron disease which has similar symptoms to respiratory onset ALS but which can be diagnosed via a blood test.  Based on our 3 year journey to a diagnosis, I highly recommend you investigate both Mayo Clinic and an ALS Associated Certified Center near you, if you haven’t already considered these options.  I hope this is helpful.  My best to you.