nck
New member
- Joined
- Dec 27, 2024
- Messages
- 2
- Reason
- Other
- Diagnosis
- 09/2024
- Country
- US
- State
- UT
- City
- LAYTON
Hello -
I am working on getting diagnosed for progressive weakness. I am 37 years old. I have had some progressive muscle weakness but in the last 2 years has progressed significantly. The only twitching that bothers me is my forehead and eye lids. I am a mental health therapist and so often I'm with clients all day talking. More and more I find I'm having trouble either forming a word or making it come out. I have to stop and like think hard and force my mouth to move it out right. I had an EMG that indicated myopathy. I was referred for an MRI and the MRI showed severe atrophy of the spinal region, hips, and thighs. I look like wagyu beef throughout all of my muscles hips down and on my stomach (those were the only places imaged). The radiologist said to confer with neuromuscular disorder like ALS. This got me into a neurologist/neuromuscular specialist at the University of Utah. My neurologist does not think it's ALS based on the EMG but a neuromuscular disorder. He was convinced it's limb-girdle muscular dystrophy. I completed the invitae comprehensive neuromuscular test and it came back with two possible variants that neither have been documented as causing issues (a POLG variant and SYT2 variant). The comprehensive panel is for muscular dystrophy, myopathies, and mitochondrial disorders. I am scheduled for a muscle biopsy January 7th.
My question is - for ALS.... did anyone else have a radiologist make this suggestion before being diagnosed with ALS? Did your muscle MRI look weird ? And did anyone have a specialist misdiagnose a muscular disorder instead of ALS.
I am working on getting diagnosed for progressive weakness. I am 37 years old. I have had some progressive muscle weakness but in the last 2 years has progressed significantly. The only twitching that bothers me is my forehead and eye lids. I am a mental health therapist and so often I'm with clients all day talking. More and more I find I'm having trouble either forming a word or making it come out. I have to stop and like think hard and force my mouth to move it out right. I had an EMG that indicated myopathy. I was referred for an MRI and the MRI showed severe atrophy of the spinal region, hips, and thighs. I look like wagyu beef throughout all of my muscles hips down and on my stomach (those were the only places imaged). The radiologist said to confer with neuromuscular disorder like ALS. This got me into a neurologist/neuromuscular specialist at the University of Utah. My neurologist does not think it's ALS based on the EMG but a neuromuscular disorder. He was convinced it's limb-girdle muscular dystrophy. I completed the invitae comprehensive neuromuscular test and it came back with two possible variants that neither have been documented as causing issues (a POLG variant and SYT2 variant). The comprehensive panel is for muscular dystrophy, myopathies, and mitochondrial disorders. I am scheduled for a muscle biopsy January 7th.
My question is - for ALS.... did anyone else have a radiologist make this suggestion before being diagnosed with ALS? Did your muscle MRI look weird ? And did anyone have a specialist misdiagnose a muscular disorder instead of ALS.