abnormal emg and thoughts about genetic testing?

I had genetic testing for cardiac issues and a very strong family history of Alzheimer’s. I am quite a bit older than you. What my brother and I decided was to have the testing and if positive (his is positive, mine is pending) to treat our kids as though it is positive in them as well, not getting them tested. This does not really relate to you I know. But the reason is, once a genetic test is positive it must be reported on life insurance applications and such. At only 25, you may not have life insurance. I would discuss with your insurance broker and if you can afford life insurance, and foresee needing it in your future (plans for kids), get it now before having the testing.

That having been said, if you need genetic testing, you need it.

@laura1970
thank you so much for the information i did not know that. good to know!

@bprather
Are you there alone or do you have anyone with you at Mayo? What are your current symptoms that brought you there? Did you have any testing, diagnosis or treatment before Mayo? I feel for you and know this must be scary since you are so young.

@bprather
I would hold off on genetic testing at this point. Have they done extensive bloodwork for neuropathy and checked if you are dehydrated, electrolytes balance, infection, inflammation, etc.?

Here is what AI said about your EMG result. There is no mention about jumping to genetic testing.

GPT-4o mini

Increased insertional activity on an electromyography (EMG) test typically suggests enhanced muscle excitability, which can indicate several underlying conditions.
Potential Causes of Increased Insertional Activity

Neuromuscular Disorders

Myopathy: This can occur due to inflammatory conditions like polymyositis or due to metabolic myopathies.
Neuropathies: Peripheral neuropathies may show increased activity at the site of entry.
Muscle Injury or Strain

Acute Muscle Strain: Recent injuries can lead to heightened insertional activities.
Other Conditions

Electrolyte Imbalances: Abnormal levels of potassium or calcium can affect muscle excitability.
Infection or Inflammation: Conditions like myositis or muscle infections may also result in increased activity.
Diagnostic Considerations

Further evaluation, including clinical history, other diagnostic imaging, laboratory tests, and perhaps a biopsy, may be necessary to pinpoint the exact cause. It’s important to discuss these EMG findings with a healthcare provider for an accurate diagnosis and treatment plan.

@bprather

Have you had more autoimmune testing beyond the MI-2 testing/result? Are you working with a rheumatologist?

Here is what MI-2 is described as in AI:

A positive Mi-2 result, typically referring to the presence of Mi-2 autoantibodies, is often associated with autoimmune conditions, particularly dermatomyositis and sometimes polymyositis.
Understanding Mi-2 Autoantibodies

Significance of Mi-2

Dermatomyositis: The presence of Mi-2 antibodies is considered a marker for this condition, which involves skin changes alongside muscle inflammation. Patients often present with characteristic rashes and muscle weakness.
Clinical Implications: Mi-2 antibodies are usually associated with a more favorable prognosis compared to other autoantibodies like Jo-1.
Symptoms of Dermatomyositis

Skin Rash: Typical rashes include heliotrope rash (purple rash on the eyelids) and Gottron's papules (red or purple bumps on the knuckles).
Muscle Weakness: Proximal muscle weakness is common, affecting shoulders, hips, and neck.
Diagnosis and Management

Diagnosis usually involves a combination of clinical evaluation, laboratory tests for autoantibodies, EMG studies, and sometimes muscle biopsy. Treatment typically involves immunosuppressive medications such as corticosteroids or other immunomodulators.

@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.

@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.

@bprather

I am glad your mom is with you.

When did your symptoms start and did any seem to trigger your symptoms or health decline? Did you have an accident or injury? Did you do sports in your teens/early 20s?

Have you had a MRI of your cervical spine and lumbar spine to see if your spinal cord is being compressed/flattened/injured?

@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

@bprather
I have spine issues and had cervical and lumbar surgeries/fusions due to spinal stenosis, degenerative disc disease, myelopathy spinal cord compression injury, small fiber neuropathy, etc.

Based upon your symptoms and my personal experience (also have a teen son with migraines with aura and Reynauds) my suggestions include:

1. See an orthopedic spine specialist to evaluate your symptoms, reflexes, gait, arm/leg strength, get updated MRIs of cervical and lumbar spine (may need MRI of both hips, too, to check joints and soft tissues/inflammation and this would be an orthopedic hip specialist). When my spinal cord and nerve roots were compressed in my neck, it caused daily headaches, neck/shoulder pain, tinnitus, hearing loss, arm/hand weakness and numbness, bladder control issues, walking/balance issues, etc. with lumbar spine compression, I had low back, buttock, hip, leg and foot pain/weakness and numbness. My EMG would show normal and at times radiculopathy. EMG alone may miss spine compression per my spine specialist so EMG alone is not enough to diagnose spine issues. I was also told I was born with a congenital narrow spinal canal which makes my symptoms more significant than normal for others. Your bowel issues and vision could be tied to your spine/spinal cord/nerve compression. You may want to rule out degenerative cervical myelopathy (I have this and now have some permanent spinal cord injury due to delayed diagnosis…took me 4 surgeons over 4 years to get a proper diagnosis).
2. Have a ENT/immunologist evaluate your swollen lymph node in throat to see if they recommend biopsy.