TLS36
03-31-2008, 12:24 AM
I have a neuromuscular problem that the doctors cannot diagnose. It causes stiffness in the muscles and they become sore if they are used. I have good grip strength but my hands will cramp easily. I also have fasiciculations everywhere. Everthing becomes stiff and sore.
The neurologist found on the EMG that I have increased insertional activity and +1 fibs and +1 Fasiciculations. I also have some kind of MUPS activity in lower body. All other test have come back normal including some DNA test.
The problem is my father, two of his cousins, and two of his uncles all became crippled in their fifties. They were never diagnosed either and all are dead now except my father and one cousin. I have the exact same problems they had when theirs started. They never went to a neurologist and there family doctors did not know or care-They just wrote it off as arthritis.
My doctor sent me to two teaching hospitals and they came up with the same results he did -abnormal EMG. They have ruled out inflamatory myopathies. I had a muscle biopsy done but it just showed nonspecific changes. I have no atrophy and neither did my relatives they just became to stiff to walk.
My neurologist does not want me working and I have filed for disability but that was over two years ago and they say it might be another year before I get a hearing. My lawyer says it will be hard because I do not have a diagnosis yet. All they can say is it is a progressive neuromuscular disorder probably familial.
I am taking Balcofen and Ultram but it is not working very well and my muscles are getting worse. Does anyone have any ideas? I need to get some relief and hopefully get back to work. I am a single parent and this is tough.
The doctor says that the disease will follow the same path as my fathers and he walks with a walker but I am in my forties and his started in his fifties and mine seems to progress more rapidly. Anyone heard of anything like this?
One university hospital did diagnose me with a cramp fasiciculation syndrome but they said it was not heriditary and they only tested one calf muscle and they also said it was not disabling so that did not make much sence. They also said it did not cause stiffness or soreness so they were a waste of time and money. They said it was a excitability of muscle problem and I have researched Isaacs and neuromytonia but I can't see where that would be a crippling disorder but I don't know. My neurologist did not put much faith in their diagnosis.
I have about run out of hope so if anyone can help me I would appreciate it.
The neurologist found on the EMG that I have increased insertional activity and +1 fibs and +1 Fasiciculations. I also have some kind of MUPS activity in lower body. All other test have come back normal including some DNA test.
The problem is my father, two of his cousins, and two of his uncles all became crippled in their fifties. They were never diagnosed either and all are dead now except my father and one cousin. I have the exact same problems they had when theirs started. They never went to a neurologist and there family doctors did not know or care-They just wrote it off as arthritis.
My doctor sent me to two teaching hospitals and they came up with the same results he did -abnormal EMG. They have ruled out inflamatory myopathies. I had a muscle biopsy done but it just showed nonspecific changes. I have no atrophy and neither did my relatives they just became to stiff to walk.
My neurologist does not want me working and I have filed for disability but that was over two years ago and they say it might be another year before I get a hearing. My lawyer says it will be hard because I do not have a diagnosis yet. All they can say is it is a progressive neuromuscular disorder probably familial.
I am taking Balcofen and Ultram but it is not working very well and my muscles are getting worse. Does anyone have any ideas? I need to get some relief and hopefully get back to work. I am a single parent and this is tough.
The doctor says that the disease will follow the same path as my fathers and he walks with a walker but I am in my forties and his started in his fifties and mine seems to progress more rapidly. Anyone heard of anything like this?
One university hospital did diagnose me with a cramp fasiciculation syndrome but they said it was not heriditary and they only tested one calf muscle and they also said it was not disabling so that did not make much sence. They also said it did not cause stiffness or soreness so they were a waste of time and money. They said it was a excitability of muscle problem and I have researched Isaacs and neuromytonia but I can't see where that would be a crippling disorder but I don't know. My neurologist did not put much faith in their diagnosis.
I have about run out of hope so if anyone can help me I would appreciate it.
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rayefaye
04-01-2008, 09:53 AM
Here might be a possibility, it's called stiffman's syndrome. I can't say this is what it is but you could try reading up on the condition to find out what you can. I know it is a very rare condition so try to see if you can find any info on this condition maybe this will help you.
TLS36
04-01-2008, 01:33 PM
Thanks rayfaye- They did check the antibobdies associated with stiffmans syndrome and I did not have them. There are cases that do not have the antibodies so it still could be a possibility. The thing that does not fit is I do not have the startle response that usually goes with stiffmans.
I am thinking that this being genetic maybe I would not have the antibodies present as in the autoimmune type. Does anyone know if that is true.
My physical symtoms very closely resemble stiffmans except for the startle response and the walks like tin soldier thing. I do not freeze up and fall down like stiffman patients do.
I was reading on the internet last night that increased insertional activity on EMG was the hallmark of denervating disorders (disorders of the motor axon or cell body of the motor neuron) Does anyone know what this means?
I am thinking that this being genetic maybe I would not have the antibodies present as in the autoimmune type. Does anyone know if that is true.
My physical symtoms very closely resemble stiffmans except for the startle response and the walks like tin soldier thing. I do not freeze up and fall down like stiffman patients do.
I was reading on the internet last night that increased insertional activity on EMG was the hallmark of denervating disorders (disorders of the motor axon or cell body of the motor neuron) Does anyone know what this means?
parisean
07-08-2008, 02:59 AM
TLS36,
Your problem sounds neurological. Have you heard anything new since you posted last?
I too have tremendous muscle problems with no proper diagnosis. I am stiff in about 2 minutes of moving. I can barely function if I don't take enough calcium. While the calcium is not the actual solution, I move much better when I take it. My muscles cramp burn and fatigue within about 2 minutes of use. I am strong to start but it falls off quickly and I struggle to keep using the muscles after that. Do you have other symptoms?
I mostly find supplements help keep me mobile. What have you found that works?
Paris
Your problem sounds neurological. Have you heard anything new since you posted last?
I too have tremendous muscle problems with no proper diagnosis. I am stiff in about 2 minutes of moving. I can barely function if I don't take enough calcium. While the calcium is not the actual solution, I move much better when I take it. My muscles cramp burn and fatigue within about 2 minutes of use. I am strong to start but it falls off quickly and I struggle to keep using the muscles after that. Do you have other symptoms?
I mostly find supplements help keep me mobile. What have you found that works?
Paris