abnormal emg and thoughts about genetic testing?

Posted by bprather @bprather, 1 day ago

hey i’m 25 year old female i have been here in scottsdale for a couple days at the mayo clinic. my EMG was very weird via the doctors and said something about increased insertional activity they want me to get genetic testing which im not sure about im wondering if anyone has gotten it done i also tested positive for MI-2 which strongly relates to dermatomyositis and i was supposed to get a muscle biopsy done but now they don’t think it’s myositis and think it’s more genetic no one in my family has any genetic muscle disease. wondering if anyone can relate im feeling a little hopeless and scared.

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@dlydailyhope
i also got diagnosed with prurigo nodularis it’s all over my body but does not correlate with dermatomyositis. i do have an appointment with a dermatologist at mayo clinic next week.

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@bprather
Another suggestion is to have your neurologist evaluate your migraines, do a small fiber neuropathy skin punch biopsy to check nerve damage that affects skin sensations causing itching/burning/temperature issues. They should also consider a MRI of brain to rule out anything causing migraines and vision issues. My son was told by his neurologist to take magnesium and omega 3 supplements which have helped reduce his migraines with aura. The minute he gets aura, he needs to take Motrin or Tylenol before pain hits to prevent painful migraines that cause him to vomit. This helps prevent the worsening of his migraines when they start. Drinking a lot of water with electrolytes also helps him with POTS blood pressure drops. He has a heart defect and gets light headed when he stands up plus Reynauds blood vessel spasming. We use the LMNT electrolytes brand and it is good. You need to drink at least 50% of your body weight in ounces of water with electrolytes to ensure proper hydration. This helps with headaches and blood pressure.

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@dlydailyhope
my mom is here with me. i have so many different symptoms some include extreme muscle weakness which i know use a walker and a wheelchair, involuntary muscle spasms, pain, numbness, aching pains, migraines, bowel dysfunction, blurry vision and more.
a couple little things i have gotten diagnosed with along the way are raynauds syndrome, spinal stenosis, herniated disc, PAD in my right leg, swollen lymph node in the back of my throat (it flares up and gets hard to breathe, swallow, talk)

my ANA blood results showed cytoplasmic and nuclear speckled positive.
most all of my blood results have came back normal.

i do not have a diagnosis. i am currently taking cymbalta, baclofen, and ativan. none of which helps.

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@bprather
I am assuming you have a full neuropathy blood panel to check for vitamin deficiencies and toxicities like B6 and B12, iron, thyroid function, glucose levels, etc. This can affect your nervous system, skin, organ function if abnormal. Are you vegan or vegetarian?

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@dlydailyhope
my symptoms started in january i was at work and i bent over to pick something off the ground and then a sharp pain shot across my back into my leg and then from there more symptoms started popping up and i’ve slowly have gotten worse over time. i have always been healthy and active i played volleyball in high school. never had anything wrong with me it all happened very random.
my cervical spine showed the lymph node and my neck is abnormally straight my thoracic spine shows kyphoscoliosis and my lumbar spine shows spinal stenosis, spondylolisthesis, and the herniated disc. no nerve compression

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@bprather
It seems many of your symptoms are tied to your spine, spinal cord, nerves,
alignment, compression, instability, and structure. This is why I wouldn’t go the genetic testing route at this point.

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Profile picture for bprather @bprather

@dlydailyhope
my symptoms started in january i was at work and i bent over to pick something off the ground and then a sharp pain shot across my back into my leg and then from there more symptoms started popping up and i’ve slowly have gotten worse over time. i have always been healthy and active i played volleyball in high school. never had anything wrong with me it all happened very random.
my cervical spine showed the lymph node and my neck is abnormally straight my thoracic spine shows kyphoscoliosis and my lumbar spine shows spinal stenosis, spondylolisthesis, and the herniated disc. no nerve compression

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@bprather
Are you really flexible/hypermobile? I am and was able to do splits and can today (I am 56) just bend over and touch the floor with the flat of my hand. No warm up needed.

Hypermobility can cause many issues with joints and cause instability and early degeneration. A rheumatologist can check for connective tissue issues.

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Profile picture for dlydailyhope @dlydailyhope

@bprather
Another suggestion is to have your neurologist evaluate your migraines, do a small fiber neuropathy skin punch biopsy to check nerve damage that affects skin sensations causing itching/burning/temperature issues. They should also consider a MRI of brain to rule out anything causing migraines and vision issues. My son was told by his neurologist to take magnesium and omega 3 supplements which have helped reduce his migraines with aura. The minute he gets aura, he needs to take Motrin or Tylenol before pain hits to prevent painful migraines that cause him to vomit. This helps prevent the worsening of his migraines when they start. Drinking a lot of water with electrolytes also helps him with POTS blood pressure drops. He has a heart defect and gets light headed when he stands up plus Reynauds blood vessel spasming. We use the LMNT electrolytes brand and it is good. You need to drink at least 50% of your body weight in ounces of water with electrolytes to ensure proper hydration. This helps with headaches and blood pressure.

Jump to this post

@dlydailyhope
i had the autonomic reflex test done which showed evidence of isolated postganglionic sympathetic sudomotor impairment

also a pulmonary function that showed weakness in my respiratory muscles

REPLY
Profile picture for bprather @bprather

@dlydailyhope
my symptoms started in january i was at work and i bent over to pick something off the ground and then a sharp pain shot across my back into my leg and then from there more symptoms started popping up and i’ve slowly have gotten worse over time. i have always been healthy and active i played volleyball in high school. never had anything wrong with me it all happened very random.
my cervical spine showed the lymph node and my neck is abnormally straight my thoracic spine shows kyphoscoliosis and my lumbar spine shows spinal stenosis, spondylolisthesis, and the herniated disc. no nerve compression

Jump to this post

@bprather
Keep in mind your MRI is taken in a static lying down position. It does not capture functional movement compression of spinal cord and nerve roots with certain positions. Spondylolisthesis means you have a vertebrae slipping over another and this could cause instability of spine and pressure on spinal cord and nerve roots. My L4 was slipping over my L5 and causing me many symptoms (had severe spinal stenosis at this level).

REPLY
Profile picture for bprather @bprather

@dlydailyhope
i had the autonomic reflex test done which showed evidence of isolated postganglionic sympathetic sudomotor impairment

also a pulmonary function that showed weakness in my respiratory muscles

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@bprather
Autonomic dysfunction can be tied to small fiber neuropathy damage. Ask to have the small fiber neuropathy skin punch biopsy (small samples of skin taken from thigh/calf or ankle). This is gold standard to do this type of biopsy to diagnose.

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Profile picture for bprather @bprather

@dlydailyhope
i had the autonomic reflex test done which showed evidence of isolated postganglionic sympathetic sudomotor impairment

also a pulmonary function that showed weakness in my respiratory muscles

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@bprather
Did you have Covid and the shots? This can negatively affect your nervous system health, too.

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Profile picture for dlydailyhope @dlydailyhope

@bprather
Keep in mind your MRI is taken in a static lying down position. It does not capture functional movement compression of spinal cord and nerve roots with certain positions. Spondylolisthesis means you have a vertebrae slipping over another and this could cause instability of spine and pressure on spinal cord and nerve roots. My L4 was slipping over my L5 and causing me many symptoms (had severe spinal stenosis at this level).

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@dlydailyhope
that is very interesting. i did not know that. because the MRI wasn’t really showing much for the cause of all my symptoms the emg was more useful and the ANA and myositis panels being positive so doesn’t make much sense why they think it’s genetic when those were positivity results leaning towards autoimmune disease not genetic.

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Profile picture for dlydailyhope @dlydailyhope

@bprather
Did you have Covid and the shots? This can negatively affect your nervous system health, too.

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@dlydailyhope
i have had COVID 3 times but i choose not to get the vaccine

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