Any similar experiences? Will this progress to ALS?

[JRusty]

I am hoping to gain any information from your experiences that you may kindly be willing to share. I am a male age 35 that noticed significant bilateral calf weakness/atrophy 3 years ago (I am unable to toe walk and difficult heel walk). Looking back the wasting started about 6 years ago. I have had ATHENA tests for miyoshi myopathy and adult onset SMA that have been negative. I have had MRI’s showing fat replacement in my my gastrocnemius and soleus muscles. The MRI on my spine was essentially normal, there is no evidence of spinal cord compression just mild L4-L5 disk herniation. I have mild CPK elevation. I have had a spinal tap and muscle biopsy that did not give any diagnosis. I have had multiple EMGS at various neuros across a 3 year time frame (including Mayo Clinic in Rochester). Over the years my EMG reports are as follows. The 1st Mayo EMG interpretation is there is evidence of neurogenic changes in distal L5 S1 innervated muscles, I have reduced recruitment with long and high amplitude in my abductor hallucis, tibialis and short low potential in medial gastoc. My most recent EMG at Mayo (Fall 09)reports the EMG findings chronic active nerve denervating neurogenic process which seem to be length dependent. The results show similar results with progression in the same muscle groups with the paraspinals being clean. My nerve conduction studies are always normal. The physicians seen give varying opinions whether this is a longstanding motor neuronopathy or motor neuropathy. Throughout all the muscle weakness I have never experienced any tingling, pain, or other sensations that suggest injury. I do experience fasciculations daily. Primarily from the knees down, otherwise, infrequently in my lower arms or upper thighs. They have never been noted on any EMGS or in a neuro clinical exam. They have given discharge diagnosis of focal motor neuropathy. With this being a very rare scenario since they are not convinced of a final diagnosis I find myself experiencing anxiety and a feeling that I am always one UMN sign away from an ALS diagnosis. I realize ALS is generally a fast progressing disease. However, I am wondering if any others ever have longstanding LMN problems that then progress over a 5-15yr time frame to ALS? This worries me particularly with the ongoing fasciculations. Any info would be greatly appreciated!

 

[wright]

Hello JRusty

Given that your symptoms have not progressed beyond your lower legs in a 6 year period, I would say that ALS is highly unlikely. The fasics you experience would be normal given that you have a tentative diagnosis of a motor neuropathy, which by the way, will not progress to ALS because a motor neuropathy is a peripheral disease of the nervous system and not a central disease of the nervous system (like ALS).

Have they discussed any type of treatment, such as IVIg?

 

[KANSASTOM]

I have similar emg results except for the low amplitudes, my velocities and snaps are normal. I have been diagnosed with Monomelic Amyotrophy with a possible Adult Onset Spinal Muscular Atrophy, I have not had the genetic test for this, didn't know there was one. I have had the genetic test for Charcot Marie Tooth, type II it was also negative. I have read that the type II's are length dependant and will produce similar emg results to yours. My lower left leg has pretty severe atrophy below the knee, however I have not had any progression for about four years, my right leg is fine. I do get the fasciculations in both legs and sometimes everywhere but they do go away. SMA or CMT are not picnics but both pale in comparison to ALS. I put my chances of developing ALS as the same as any healthy guy walking down the street.