Neuromuscular Disease Testing: Insights and Next Steps

Q: Neuromuscular Disease Testing: Insights and Next Steps

Hello, sir： Generally, when abnormalities are observed in electromyography (EMG), an MRI is performed to locate the tissue for a planned biopsy of the muscle. <br>This is because it is not easy to locate the tissue once the surgery begins. <br>It is recommended to follow up with

"Neuromuscular Disease Examination"

Hello Dr.
Jiang, thank you for your response.
I am currently in Kaohsiung.
I first visited Kaohsiung Medical University for an emergency consultation around March of last year due to unexplained dizziness.
At that time, the resident physician suggested the possibility of multiple sclerosis.
Later, in June, I consulted Dr.
Hsu Chong-ya, who arranged for me to be hospitalized for further examination.
During my hospitalization, the attending physician was Dr.
Lu Hsiang-ju.
After a series of tests, Dr.
Lu indicated that there were some minor abnormalities in each test, but they could not be attributed to any specific disease.
The final conclusion was cervical and lumbar spine compression.
Dr.
Hsu also recommended that I see neurosurgeon Dr.
Lin Chih-lung, but Dr.
Lin stated that the degree of compression was insufficient to cause weakness in my limbs.
I continued to be monitored for over a year, during which Dr.
Lu performed another electromyography (EMG), nerve conduction studies, and an MRI, but the results were not significantly different from the previous ones, which left Dr.
Lu quite frustrated.
Later, around September of this year, Dr.
Hsu suggested I consult Dr.
Chen Shu-fang at Kaohsiung Chang Gung Memorial Hospital, as they have a specialty in neuromuscular diseases.
Dr.
Chen conducted EMG, nerve conduction studies, and blood tests for CK levels, but she indicated that the results were similar to those from Kaohsiung Medical University.
Subsequently, in November, she scheduled a muscle MRI and blood tests for rheumatological and immunological markers.
I would like to ask Dr.
Jiang: 1.
Given the results and the doctors' frustration, I also feel quite discouraged.
Is it possible that my follow-up period has not been long enough? Could the disease be too early-stage, and the test results insufficient to show any specificity? 2.
I have previously discussed with my physician the possibility of performing muscle or nerve biopsies, but the physician indicated that since no significant findings were observed in the earlier tests, they did not recommend it.
Is it possible for EMG and nerve conduction studies to show no abnormalities, yet a biopsy could reveal abnormalities or signs of disease? I apologize for the lengthy questions, and I appreciate Dr.
Jiang taking the time to clarify these concerns.

Niming, 20~29 year old female. Ask Date: 2021/10/20

Dr. Jiang Junyi reply Neurology

Hello, sir: Generally, when abnormalities are observed in electromyography (EMG), an MRI is performed to locate the tissue for a planned biopsy of the muscle.
This is because it is not easy to locate the tissue once the surgery begins.
It is recommended to follow up with Dr.
Chen Shufang at Chang Gung Memorial Hospital in Kaohsiung.
Thank you for your inquiry, and feel free to discuss any related questions! Wishing you good health and peace.
Dr.
Jiang Junyi from Taoyuan cares about you.

Reply Date: 2021/10/20

More Info

Understanding neuromuscular diseases and the testing involved can be quite complex, especially when faced with inconclusive results. Based on your detailed history and the series of tests you've undergone, let's break down your concerns and provide some insights into the next steps.

1. Duration of Follow-Up and Disease Progression: It’s understandable to feel discouraged when test results do not yield a clear diagnosis. Neuromuscular diseases can sometimes take time to manifest in a way that is detectable through standard testing methods. The fact that you have undergone multiple tests, including electromyography (EMG), nerve conduction studies, and MRI, is a positive step. However, some neuromuscular conditions may not show significant abnormalities early in their course. It’s also possible that the symptoms you are experiencing could be due to a combination of factors, including structural issues like cervical and lumbar spine compression, which may not fully explain your symptoms but could contribute to them.

The timeline for follow-up can vary significantly depending on the specific condition suspected. In some cases, a longer observation period may be necessary to see changes in test results or symptom progression. If your symptoms persist or worsen, it may be worth discussing with your neurologist the possibility of more frequent follow-ups or additional testing.

2. Potential for Muscle or Nerve Biopsies: Regarding your question about muscle or nerve biopsies, it is indeed possible for biopsies to reveal abnormalities that are not detected through EMG or nerve conduction studies. These tests primarily assess the electrical activity and conduction of nerves and muscles, while a biopsy can provide direct evidence of pathological changes at the cellular level. For example, certain inflammatory myopathies or hereditary muscle diseases may not show up on EMG but could be identified through histological examination of muscle tissue.

If your neurologist has indicated that the current tests have not shown significant findings, they may be hesitant to proceed with invasive procedures like biopsies. However, if your symptoms continue to be debilitating or if there is a strong clinical suspicion of a specific neuromuscular disorder, it may be worth revisiting this option. Discussing your ongoing symptoms and concerns with your neurologist can help determine if a biopsy is warranted.

3. Next Steps: Given your situation, here are some potential next steps you might consider:
- Continued Monitoring: Keep a detailed record of your symptoms, including any changes or patterns you notice. This information can be invaluable for your healthcare team in making a diagnosis.

- Consultation with Specialists: If you haven’t already, consider seeking a second opinion from a specialist in neuromuscular diseases. Sometimes, a fresh perspective can lead to new insights or testing options.

- Further Testing: Discuss with your neurologist the possibility of additional tests, such as genetic testing, which can sometimes identify hereditary neuromuscular disorders that may not be apparent through standard testing.

- Consider a Multidisciplinary Approach: Engaging with a team that includes neurologists, physiatrists, and possibly rheumatologists or geneticists can provide a more comprehensive evaluation of your symptoms.

In conclusion, while it can be frustrating to navigate the complexities of neuromuscular disease testing, persistence in seeking answers is key. Keep advocating for your health, and don’t hesitate to express your concerns and desires for further testing with your healthcare providers. Your symptoms deserve thorough investigation, and with the right approach, you can work towards finding clarity and appropriate management for your condition.

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