Re: Hello All SMA liver from PA
Hi Greg, my name's Lee and I loved The Office! Sorry to hear about your pain. My family has a history of Spinal Muscular Atrophy. My uncle has type 3a and my mother has type 3b, although some would say she has type 4 but it's still linked to the same gene. My mother also has a pain syndrome where she gets shooting\stabbing sensations all over so I sort of know what your going through. My mother was diagnosed in '96, My uncle was not diagnosed until she was but he was in a chair by the age of 12 and is now a quadriplegic, and my mother is still ambulatory. They're both around 60.
Two years ago I was working as a carpenter, then one year ago I developed weakness about my legs, hips and shoulders, so I'm undergoing testing and awaiting a diagnosis. My physician thinks that I have SMA. My DNA test was not informative, my EMG showed a reduced motor unit recruitment, and my first muscle biopsy showed non-specific changes. My physician tells me that these findings are suggestive of SMA, and due to the slowly progressive nature I would need a second biopsy from a more affected muscle if I wanted a definitive answer, which I do. I'm 25 so I would have type 3b, maybe adult onset type 4.
I have searched the net for people with SMA but there aren't many support forums out there. Its good to meet someone who's going through the same condition as my family.