Hereditary Peripheral Neuropathies - Clinical Perspective
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- Опубліковано 13 вер 2024
- Christopher Klein, M.D., discusses how a comprehensive testing approach with next-generation sequencing has been studied to show greater value in testing for hereditary peripheral neuropathies, and is therefore recommended.
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Is it possible to be screened at Mayo Clinic in Neurology Dept?
I am suffering from post surgical inflammatory neuropathy from compression shrech for over 6 yrs now after total knee reconstruction surgery.
No one knows what to do, and there is 2 surgeons who want $60,000 and do not take insurance 😅
I have not had any relief its debilatating
Excellent lecture.
Mine was so misdiagnosed by Mayo Rochester. 4 years of testing! 2014 Dec, l saw several specialist there. l do have CMT, very obviously. l feel like l wasn't listened to as your testing kept showing changes in my feet but no one in neurology put it all together. Glove and stocking was what l was hearing. l am far worse off, in an electric wheelchair at best. What really is upsetting is that l was dropped to limited services, not believed, when l needed help, a good diagnosis the most. Bellin took 3 days and we together are dealing with the aftermath since. lm not impressed with neurology at Mayo clinic.
What exactly is the test for Charcot Marie Tooth disease? More information on this please.
There are different types. They all seem to cause peripheral neuropathy + many types also cause mitochondrial dysfunction. Type I demyelinating (shows up on an EMG) and Type II, axonal ( doesn't necessarily show up strongly on an EMG, despite muscle weakness, and can show up later in life ). There are other rarer types as well. Google CMT Association. The website describes symptoms in more detail.
I noticed my symptoms start just over a year ago (age 31). It seems to be sensory with loss of sensation and some burning cold "pain". It is worse on my outer left-hand side of my body, fingers and toes. I have even lost sensation in my abdomen, chest, genitals and face. Brain and cervical spine were normal, reflexes were normal, blood glucose, iron, b12, immuno all normal. Lyme disease tested negative. I'm waiting for a nerve conductivity test. Should I request genetic testing?
Hi how did your test go. Have they found what the problem is coz I'm suffering the same symptoms
Most definitely you should! Good luck to you!
I waited and waited with mine. When went in they could do nothing Been on permanent disability to. 24/7 pain
@@mikestuhr2797 I've had every diagnostic test done bar lumbar puncture and nerve biopsy. Not much else I can do.
Cognitive issues? which form of hereditary neuropathy causes cognitive impairment?
I believe types of aTTR Amyloidosis in males show symptoms of cognitive impairment due to the collection of amyloid fibrils around the nervous system, causing the cognitive impairments of loss of motor functions, involuntary movements, loss of bowel function, seen in diarrhea, constipation, as well as the theory that many of these individuals also have some form of a muscular skeletal impairment such as scoliosis, bulged discs, or spinal stenosis. I’d know, I have all of that. ✌🏽
HSAN 2, aka Morvan's, has cognitive symptoms.
I have spent months researching treating neuropathy at home and found an awesome resource at Nats Neuro Site (look it up on google)
Is it curable ? Or can it be put in remission
Nice
I have congenital polyneuropathy and spastic diplegia cerebral palsy. I'm trying to understand what kind of injury I have because now I'm older and the pain quickly spread and it is motor sensory and autonomic
We share a similair issue, i also have spasticity (probably celebral pares too) and this type of polyneuropati (but not much pain). But right about now am considering taking medicine together with my physical teraphy. Ive been through a lot of ups and down… but as an adult trying to face it more with persoective. Anyway i hope you are good and keep fighting.
How much is a mayo clinic visit?
Way more than it's worth.