OpenHealth Q&A

Seeking Insights on My Health Journey

Hello everyone, I am a 36-year-old residing in Poland, and I would like to share my medical experience with you. My health troubles began on May 20, 2023, when an ENT specialist diagnosed me with a deviation of the tongue towards the right, along with numerous fasciculations and atrophy in the same area. This consultation stemmed from years of dealing with chronic acute otitis media, a condition that only alleviated after undergoing corticosteroid therapy. Following my ENT visit, I was referred to a neurologist who, upon evaluation, expressed concern regarding the initial signs of ALS. The neurologist conducted a comprehensive examination where he observed heightened knee reflexes, although the Babinski reflex was absent. He suggested I come back in three months, but the uncertainty of the situation sent me spiraling into a state of anxiety. In search of clarity, I consulted several neurologists across Poland. Opinions varied: some dismissed the possibility of ALS, others recommended a wait-and-see approach, while a few maintained that it could be the early stages of the disease, likely to progress. This ongoing ambiguity has created a tormenting mental strain. Here’s where things currently stand: 1. I've undergone seven EMG tests focused on ALS evaluation. The results indicated chronic damage to the twelfth cranial nerve and signs of reinnervation, while other regions were normal. I had my initial test in June 2023 and my most recent in December 2024, and all results align. While I have refrained from sharing images of my tongue, all medical professionals involved have acknowledged the right side atrophy and fasciculations. Interestingly, the latest EMG used a different approach by inserting the needle from beneath the skull, resulting in normal readings in that area. 2. I have also been subjected to various MRIs covering the head, cervical, thoracic, and lumbar spine, all yielding normal results. 3. A multitude of blood analyses—including CK, LDH, and heavy chain neurofilaments—have returned normal or negative results in testing for conditions like Kennedy's disease, SMA, and ALS-SOD1. Investigation for Lyme disease, including cerebrospinal fluid analysis, has been negative. Electrolyte levels including magnesium, sodium, and potassium have all shown normal variations. Additionally, my whole genome sequencing genetic test revealed no mutations. 4. Presently, my neurological symptoms consist of isolated fasciculatory twitches throughout my body, varying in intensity, as well as foot pain when walking, especially in the soles. An ultrasound indicated plantar fasciitis. My reflexes are heightened in the knees, and I’ve noticed a decline in my strength; everyday tasks like shopping feel increasingly taxing on my muscle endurance. 5. Although neurosarcoidosis was initially suspected, that diagnosis was discarded. 6. The only confirmed atrophy relates to the right side of my tongue, although I suspect similar changes may have developed in my feet as well. 7. Thankfully, I experience no difficulties with speech, eating, or swallowing. 8. An EMG showed a positive tetany test, along with a positive Chvostek sign. 9. I possess anti-HMGCR antibodies, which prompted a consideration of inflammatory myopathy. However, the widespread fasciculations indicated that this was unlikely to be the correct path, and that hypothesis was ultimately dismissed. 10. Myasthenia gravis has been ruled out. 11. Numerous tests for Lyme disease, including ELISA, Western Blot, and analyses of circulating immune complexes, have resulted in negative findings. I would greatly appreciate your thoughts on my situation. Are there any additional avenues I should explore or tests you could suggest? The chronic stress of not having a definitive diagnosis has become unbearable, plunging me into emotional turmoil. It has been 28 months since I first demonstrated symptoms of this condition, yet no healthcare professional can provide a clear answer. Any guidance or recommendations would be invaluable. Additionally, I recently underwent a full body MRI which indicated no signs of fatty infiltration, save for my tongue. Overall, I seem to perplex medical practitioners. Just last week, a conference involving neurologists and rheumatologists was convened at the hospital where I had received prior treatment. I’ve been advised to have repeat EMG tests and MRIs every six months. This delay in arriving at a conclusive diagnosis is worrisome. Furthermore, I have learned that anti-HMGCR antibodies may be even rarer than some severe conditions like ALS, leaving me feeling lost and uncertain. I’d love to hear your thoughts.

Answers (1)

9/8/2025, 11:11:06 AM

OpenHealth AI

Thank you for sharing your detailed health journey. It's clear you're facing a complex and understandably distressing situation, and I commend you for your proactive engagement in seeking answers. While I can't provide specific medical advice, I can offer insights and suggestions that may help you navigate this challenging process.

Main Points

1. Complex Evaluation: You have undergone extensive testing for various neurological conditions, including ALS, inflammatory myopathy, and Lyme disease, with mostly normal results.
2. Current Symptoms: Persistent fasciculations, foot pain, heightened reflexes, and decreased strength are notable.
3. Emotional Impact: The ambiguity surrounding your diagnosis is understandably causing significant stress.

Explanation

Your extensive evaluation involving EMGs, MRIs, and blood tests has yielded mostly normal results, which is promising as it rules out several serious conditions. The chronic fasciculations and tongue atrophy present a unique case, and the varied opinions you’ve received highlight the complexities of diagnoses in neurology. The presence of anti-HMGCR antibodies can indicate certain autoimmune conditions, but as noted, the interpretation in your case has not aligned with a clear diagnosis.

Your physical symptoms and the emotional stress from uncertainty are both valid concerns. Continuing to manage these effectively is vital for your overall well-being.

Next Steps

1. Continued Monitoring: Keep up with the recommended follow-up EMG and MRI tests every six months. Tracking changes over time is essential.

2. Symptom Management:

   • Physical Therapy: Engaging in physical therapy may help improve muscle strength and reduce discomfort associated with foot pain, like plantar fasciitis.
   • Stress Management: Consider practices such as mindfulness, yoga, or meditation, which may help manage anxiety levels related to your health concerns.

3. Second Opinions: If you continue to feel uncertain, it may be worth seeking a third or fourth opinion from a specialized neuromuscular clinic. New insights or alternative evaluations may offer more clarity.

4. Support Networks: Connecting with support groups or community resources for people with similar neurological symptoms can provide emotional support and shared experiences.

5. Keep a Health Journal: Documenting changes in your symptoms, activities, and emotional state can be helpful during evaluations with healthcare professionals, allowing you to provide a comprehensive overview.

6. Discuss Symptoms with Your Doctor: Bring up any new or changing symptoms, such as the decline in muscle endurance or additional atrophy if noted. This information can guide further investigations or potential treatments.

Remember, you are not alone in this process, and seeking both medical answers and emotional support is important. If you have further questions or need more guidance, please feel free to ask.