Patient seems unsure of ALS diagnosis

Dear Dr. Roach: My question is about amyotrophic lateral sclerosis (ALS). I have been diagnosed with this horrible, debilitating disease and don’t know where I am headed. I went to a hospital for a second opinion and additional testing to rule out other possible causes of this numbness. Nary a test was done; the neurologist looked at the electromyography (EMG) done by a neuromuscular doctor at another facility, and he just agreed with the diagnosis.

I had wanted to get tests done to see if it was perhaps a concussion, if it was from using yard sprays or from COVID vaccines, or if it was due to my having a terrible bad back for years, but none of these were even considered. I am deteriorating rapidly. Would you please give me some suggestions? Am I wrong for seeking other causes?

I am very sorry to hear that you have been diagnosed with ALS. I understand why you would like to believe that there are other possibilities for this because there are no treatments for ALS that can stop the progression of this fatal disease.

The diagnosis of ALS is made after a thorough examination and history review. Electrodiagnostic studies, like an EMG or a nerve conduction test, can help support the diagnosis, but they do not make the diagnosis themselves. The nerve conduction study is normal for ALS, while the EMG shows the nerves that are not connecting to the muscles. Other diseases of the muscles and muscle nerves should be considered.

MRI scans are usually performed, as they can identify conditions that mimic ALS. MRIs are also normal for ALS, and the terrible back you mention could include a condition called cervical myelopathy, which has some features that can be mistaken for ALS. Routine blood and urine testing should be done to exclude other conditions, such as Lyme disease, and the spinal fluid is sometimes analyzed if the neurologist suspects immune-medicated nerve disease.

However, none of the other possibilities you mention is likely to be confused for ALS by an experienced neurologist who does a complete exam.

I have three concerns: The first is that you are suggesting you may not have had a thorough evaluation so far. Second, the only symptom you mention is numbness, and although this can occasionally happen with ALS, you are much more likely to have weakness and muscle twitching without numbness. Third, ALS tends to progress slowly, not rapidly.

For all these reasons, and because you need to be sure of your condition, I would get another opinion from a neurologist who doesn’t rely on someone else’s history review and exam.

Dear Dr. Roach: I am a 94-year-old female who takes one 0.75-mg pill of levothyroxine per day since 1970. It was prescribed because of low energy. My doctor thinks the usual blood test is all that is required for proper diagnostics. Would I benefit from a more thorough test, and if so, what would you recommend, as my energy level is now very low?

For most people with low thyroid levels, a simple test of the thyroid level and/or the TSH (thyroid stimulating hormone) level is all that is needed to be sure that the dose of the replacement thyroid hormone, levothyroxine, is adequate. However, there are many causes for low energy. A low blood count and abnormalities of any critical organ can all cause fatigue.

The diagnosis starts with a careful history review and exam. Lab tests are important, but nothing is as likely to give the correct diagnosis as listening to the patient will.