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Is Cramp Fasciculation Syndrome Related To Mitochondrial Myopathy?
Question: Hi,
Been diagnosed with cramp fasciculation syndrome. Was a competitive athlete. Was unable to train effectively anymore. Was troubled by muscle fasciculations in legs which were largely affected after training. Also muscle fatigue. Went for consult with Neuro. Blood indicated elevated CPK levels around 1000, went for muscle biopsy which found and was diagnosed originally with mitochondrial myopathy. My Dr was adamant that tests over read and based on symptom and EMG he believe my condition was immune mediated and therofore cramp fasciculation syndrome fitted. My exercise intolerance in crease and I am physically weak but not clinically. All my weakness and myalgia are strictly proximal. My cpk has remained elevated for around 2 years. I'm just worried something has been missed as no treatment plan has worked All. Only other tests that have come back prositive are Lyme but Dr no prepared to pursue. XXXXX
Been diagnosed with cramp fasciculation syndrome. Was a competitive athlete. Was unable to train effectively anymore. Was troubled by muscle fasciculations in legs which were largely affected after training. Also muscle fatigue. Went for consult with Neuro. Blood indicated elevated CPK levels around 1000, went for muscle biopsy which found and was diagnosed originally with mitochondrial myopathy. My Dr was adamant that tests over read and based on symptom and EMG he believe my condition was immune mediated and therofore cramp fasciculation syndrome fitted. My exercise intolerance in crease and I am physically weak but not clinically. All my weakness and myalgia are strictly proximal. My cpk has remained elevated for around 2 years. I'm just worried something has been missed as no treatment plan has worked All. Only other tests that have come back prositive are Lyme but Dr no prepared to pursue. XXXXX
Brief Answer:
What about thyroid function tests?
Detailed Answer:
Hello and thanks for using HCM.
I have read your query and understand your concerns.
I don't think your condition is related to mitochondrial myopathy, it is a maternal inherited disease and manifests with other neurologic symptoms besides muscles weakness.
I have a question about thyroid gland function tests, if you undergone those tests and if yes, we're the results within normal ranges?
Also, were assessed by tests Inflamatory and autoimmune diseases as possible causes of your symptoms, with autoantibodies levels, ESR, serum myoglobin levels, AST, ALT,?
Two conditions that may cause your symptoms related to thyroid are hypothyroidism and hyperparathyroidism.
About Lyme disease, symptoms include muscles weakness, numbness and impaired movements, but other symptoms are more prominent such joints pain, cerebral involvement, flu-like symptoms in the first stage.
Hope this helps. I remain at your disposal for further questions and clarifications.
What about thyroid function tests?
Detailed Answer:
Hello and thanks for using HCM.
I have read your query and understand your concerns.
I don't think your condition is related to mitochondrial myopathy, it is a maternal inherited disease and manifests with other neurologic symptoms besides muscles weakness.
I have a question about thyroid gland function tests, if you undergone those tests and if yes, we're the results within normal ranges?
Also, were assessed by tests Inflamatory and autoimmune diseases as possible causes of your symptoms, with autoantibodies levels, ESR, serum myoglobin levels, AST, ALT,?
Two conditions that may cause your symptoms related to thyroid are hypothyroidism and hyperparathyroidism.
About Lyme disease, symptoms include muscles weakness, numbness and impaired movements, but other symptoms are more prominent such joints pain, cerebral involvement, flu-like symptoms in the first stage.
Hope this helps. I remain at your disposal for further questions and clarifications.
Above answer was peer-reviewed by :
Dr. Raju A.T
Hi,
Yes I have had a thyroid function test done when my symptoms first started. TSH reading 1.5.
other tests were C reactive protein Normal. Rheumatic factor - Normal. Autoimmune antibodies - negative. ENA screening test also Normal.
Extractable nuclear antigen markers also negative.
The only out of the ordinary results have been elevated Cpk, Lyme results and visible muscle fasciculations.
My EMG als picked up fasciculations and my Dr mentioned there being denervation on both limbs tested.
He is still convinced in cramp fasciculation due to emg and myalgia I have.
Also all weakness proximal and symmetrical.
Liver function tests have been fine except Bilirubin has been low.
Anything else we should be looking for.
Cheers XXXXXXX
Yes I have had a thyroid function test done when my symptoms first started. TSH reading 1.5.
other tests were C reactive protein Normal. Rheumatic factor - Normal. Autoimmune antibodies - negative. ENA screening test also Normal.
Extractable nuclear antigen markers also negative.
The only out of the ordinary results have been elevated Cpk, Lyme results and visible muscle fasciculations.
My EMG als picked up fasciculations and my Dr mentioned there being denervation on both limbs tested.
He is still convinced in cramp fasciculation due to emg and myalgia I have.
Also all weakness proximal and symmetrical.
Liver function tests have been fine except Bilirubin has been low.
Anything else we should be looking for.
Cheers XXXXXXX
Brief Answer:
Treatment with Carbamazepine or Phenytoin.
Detailed Answer:
Welcome back XXXXXXX
Since, all those tests resulted negative about other causes of your symptoms, cramp fasciculations syndrome should be confirmed.
There is need to try the drugs that improve this condition ( if you haven't).
Drugs used in this case include Carbamazepine ( Tegretol) and Phenytoin (Dintoina).
If clinical and electrophysiological (EMG) improvement, this syndrome is confirmed.
Another thing to consider is the measurement of antibodies to voltage-gated to potassium channels levels, as a mechanism of this condition.
So, if this syndrome is confirmed, treatment with Carbamazepine or Phenytoin should be continued, if not, then other causes of your symptoms should be assessed.
Hope I helped you. Best regards.
Treatment with Carbamazepine or Phenytoin.
Detailed Answer:
Welcome back XXXXXXX
Since, all those tests resulted negative about other causes of your symptoms, cramp fasciculations syndrome should be confirmed.
There is need to try the drugs that improve this condition ( if you haven't).
Drugs used in this case include Carbamazepine ( Tegretol) and Phenytoin (Dintoina).
If clinical and electrophysiological (EMG) improvement, this syndrome is confirmed.
Another thing to consider is the measurement of antibodies to voltage-gated to potassium channels levels, as a mechanism of this condition.
So, if this syndrome is confirmed, treatment with Carbamazepine or Phenytoin should be continued, if not, then other causes of your symptoms should be assessed.
Hope I helped you. Best regards.
Above answer was peer-reviewed by :
Dr. Raju A.T
Hi,
Am on Tegratol and Gabapentin at the moment. Wont say im experiencing much success although though the Gabapentin does assist with the Myalgia
Have done the voltage gated potasium antibody test and was negative.
My Dr has also put me on immune suppressant incl prednisone and Athiaprine.
So your suggestion is to continue as is?
If u can think of any other investigations we should be doing plse advise.
Thks again for your assistance.
Cheers XXXXXXX
Am on Tegratol and Gabapentin at the moment. Wont say im experiencing much success although though the Gabapentin does assist with the Myalgia
Have done the voltage gated potasium antibody test and was negative.
My Dr has also put me on immune suppressant incl prednisone and Athiaprine.
So your suggestion is to continue as is?
If u can think of any other investigations we should be doing plse advise.
Thks again for your assistance.
Cheers XXXXXXX
Brief Answer:
Substitution of Tegretol with Phenytoin could work.
Detailed Answer:
Hi again XXXXXXX
Seems you have exhausted almost all tests needed to diagnose your condition.
At this point, I would have recommended substitution of Tegretol with Phenytoin, since Gabapentin is working at some level.
In my opinion, a trial of about one month is needed to see the true results of Phenytoin use.
If Phenytoin will result in no benefit, e review of the diagnosis is necessary.
Hope I helped you.
Take care.
Substitution of Tegretol with Phenytoin could work.
Detailed Answer:
Hi again XXXXXXX
Seems you have exhausted almost all tests needed to diagnose your condition.
At this point, I would have recommended substitution of Tegretol with Phenytoin, since Gabapentin is working at some level.
In my opinion, a trial of about one month is needed to see the true results of Phenytoin use.
If Phenytoin will result in no benefit, e review of the diagnosis is necessary.
Hope I helped you.
Take care.
Above answer was peer-reviewed by :
Dr. Raju A.T
Thks Dr.
I have tried Phenytoin without success. I guess we are now hoping for a result with the immunosuppressants.
Based on our discussion it seems my Dr is def following the correct course of treatments.
Was hoping there was maybe something he may have missed.
Kind regards
XXXXXXX
I have tried Phenytoin without success. I guess we are now hoping for a result with the immunosuppressants.
Based on our discussion it seems my Dr is def following the correct course of treatments.
Was hoping there was maybe something he may have missed.
Kind regards
XXXXXXX
Brief Answer:
I think your Doctor is right.
Detailed Answer:
hi again XXXXXXX
In my opinion, your Doctor is in the right track.
Just give him time.
If cramp fasciculations syndrome doesn't improve after treatment, Lyme disease should be considered seriously as a possible cause of your symptoms and treated as well.
Take care.
I think your Doctor is right.
Detailed Answer:
hi again XXXXXXX
In my opinion, your Doctor is in the right track.
Just give him time.
If cramp fasciculations syndrome doesn't improve after treatment, Lyme disease should be considered seriously as a possible cause of your symptoms and treated as well.
Take care.
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Above answer was peer-reviewed by :
Dr. Neel Kudchadkar
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