Muscle Loss: Symptoms, Diagnosis, and Next Steps

"Often feel/see" and "often touch" my muscle loss?

For the past four months, my aunt has frequently felt and observed muscle loss in her thighs, calves, soles of her feet, and the area beneath her thumb.
This has been accompanied by muscle pain, occasional muscle twitching, and a weight loss of 2 kilograms.
She has visited several hospitals in the northern region and undergone two electromyography (EMG) tests, nerve conduction studies, electroencephalograms (EEG), and electrocardiograms (ECG), all of which returned normal results.
She also consulted a specialist in muscle atrophy in Kaohsiung, but the doctor stated that the cause is still unclear and further observation is needed.

My aunt is feeling increasingly depressed, as it seems her condition is progressively worsening.
She notices her muscle mass diminishing daily, finds it increasingly difficult to walk, and experiences growing weakness in her hands.
Are there any other more advanced diagnostic tests available? Could it be possible that her symptoms are related to a psychological disorder? Before I take her to see a psychiatrist, I want to confirm that there are no underlying physical issues.
Thank you.

Shi's, 30~39 year old female. Ask Date: 2012/09/03

Dr. Lan Shengxing reply Neurology

Based on the symptoms described, a definitive diagnosis cannot be made without reviewing actual reports, and it is indeed difficult to provide a satisfactory answer without that information.
However, since you have already consulted several neurologists, seeking help from a psychiatrist or psychologist could also be a good option.

Reply Date: 2012/09/03

More Info

Muscle loss, accompanied by pain and muscle twitching, can be distressing and confusing for both the individual experiencing it and their loved ones. Your description of your aunt's symptoms, including noticeable muscle loss in various areas, pain, and a decrease in strength, raises several important considerations regarding potential underlying causes and the next steps for diagnosis and treatment.

Firstly, it is essential to understand that muscle loss, or atrophy, can occur due to a variety of reasons, including disuse, neurological disorders, metabolic issues, and even psychological factors. Given that your aunt has undergone multiple tests, including electromyography (EMG), nerve conduction studies, EEG, and ECG, and that these tests have returned normal results, it suggests that significant neurological or cardiac issues may be less likely. However, the persistence of her symptoms indicates that further investigation is warranted.

Potential Next Steps for Diagnosis
1. Comprehensive Blood Tests: While initial tests may have been normal, it may be beneficial to conduct a more comprehensive panel of blood tests. This could include checking for vitamin deficiencies (such as Vitamin D, B12, and folate), thyroid function tests (to rule out hypothyroidism), and markers of inflammation (such as C-reactive protein or ESR). Additionally, testing for autoimmune conditions or metabolic disorders may provide further insights.

2. Muscle Biopsy: If muscle atrophy is suspected to be due to a primary muscle disorder, a muscle biopsy may be warranted. This procedure can help identify conditions such as muscular dystrophies or inflammatory myopathies.

3. MRI of Muscles: An MRI can provide detailed images of muscle tissue and may help identify any structural abnormalities or signs of inflammation that other tests may have missed.

4. Neurological Evaluation: Given the symptoms of muscle twitching and weakness, a thorough neurological evaluation by a specialist in neuromuscular disorders may be beneficial. This could include additional imaging studies, such as an MRI of the brain and spinal cord, to rule out any central nervous system issues.

5. Physical Therapy Assessment: Engaging with a physical therapist can not only help in assessing muscle function and strength but also in designing a tailored rehabilitation program to address muscle weakness and improve mobility.

Psychological Considerations
It is also important to consider the psychological aspect of her condition. Chronic illness and the experience of muscle loss can lead to anxiety and depression, which can further exacerbate physical symptoms. If psychological factors are suspected, a referral to a mental health professional may be appropriate. Cognitive-behavioral therapy (CBT) and other therapeutic approaches can help manage the emotional impact of chronic physical symptoms.

Conclusion
In summary, while your aunt has undergone several tests that have returned normal results, her ongoing symptoms warrant further investigation. A comprehensive approach that includes blood tests, possibly a muscle biopsy, and a thorough neurological evaluation may provide more clarity. Additionally, considering the psychological impact of her condition is crucial in providing holistic care. It is essential to continue advocating for her health and seeking out specialists who can provide the necessary support and treatment options.

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