Kitchener
Active member
- Joined
- Mar 29, 2011
- Messages
- 88
- Reason
- PALS
- Diagnosis
- 03/2011
- Country
- AU
- State
- Western Australia
- City
- Perth
Hello Everyone
I'm back on the forum after a few months off while being treated for multifocal motor neuropathy (MMN). Just to briefly recap my history on this forum I was diagnosed with MND in March 2011 and subsequently referred to a second neurologist who was unconvinced by the original diagnosis. She took the view that while I could very well have MND, I might instead have MMN and I have been on IVIg treatment since last May. My health thankfully has been good throughout, and I have only experienced weakness and atrophy in one hand (the right) over the past nine months (although this has been slowly progressive). I can still run, cycle, swim and function normally. However, I think my neuro has become a little uncertain of the MMN diagnosis because my hand is getting worse, not better (despite the fact the rest of me is fine). Yesterday she brought up the possibility that I might have late onset (Type 4) spinal muscular atrophy (SMA). For reference I am in my early 40's and have been experiencing symptoms (fasciculations, progressive weakness right hand only) for 14 months. I understand SMA is a genetic condition, and my neuro has sent me to the pathology lab to get a genetic test done to check for damage/deletion of the SMN1 gene. As this forum contains a vast font of knowledge on all things neurological, I wonder if anyone knows anything about SMA and specifically:
(i) how accurate is the genetic test?
(ii) what are the range of prognoses for Type4 SMA?
Many thanks for your help!
I'm back on the forum after a few months off while being treated for multifocal motor neuropathy (MMN). Just to briefly recap my history on this forum I was diagnosed with MND in March 2011 and subsequently referred to a second neurologist who was unconvinced by the original diagnosis. She took the view that while I could very well have MND, I might instead have MMN and I have been on IVIg treatment since last May. My health thankfully has been good throughout, and I have only experienced weakness and atrophy in one hand (the right) over the past nine months (although this has been slowly progressive). I can still run, cycle, swim and function normally. However, I think my neuro has become a little uncertain of the MMN diagnosis because my hand is getting worse, not better (despite the fact the rest of me is fine). Yesterday she brought up the possibility that I might have late onset (Type 4) spinal muscular atrophy (SMA). For reference I am in my early 40's and have been experiencing symptoms (fasciculations, progressive weakness right hand only) for 14 months. I understand SMA is a genetic condition, and my neuro has sent me to the pathology lab to get a genetic test done to check for damage/deletion of the SMN1 gene. As this forum contains a vast font of knowledge on all things neurological, I wonder if anyone knows anything about SMA and specifically:
(i) how accurate is the genetic test?
(ii) what are the range of prognoses for Type4 SMA?
Many thanks for your help!