I am 42 y.o female dx'ed with a myopathy-probable mitochaondrial based on emg findings and muscle bx which showed increased lipid drops. I have proximal muscle weakness and repsiratory muscle weakness verified by pft's. I also have a pos. ANA->1:640 speckled pattern. This has always been contributed to having hashimoto's and vitiligo. Lately, I have been having joint pain and stiffness but no gross swelling in the joints. I have seen a rheumatologist about 3 yrs ago who ruled out lupus at that time but said it could show up later. My neuro. seems puzzled by the pain and the pos. ANA. Does pain and stiffness go along with the myopathy ? I also will have myalgia at times after minimal exertion but mainly easy fatigability with poor exercise tolerance verified by a stress echo. I also have had tingling sensations in my toes and feet lately.My fingers are also very sensitive to cold like when touching something very cold- it is very painful. These are relatively new sxs.
I know you cannot dx as this is an educational site but should I see a rheumatologist again or just contribute it to the myopathy? I've had labs such as cpk, aldolase etc which have been normal.
First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes.
From the story you present I suspect this is just a fraction of your medical history and there is much data that I do not have. Many of the signs and symptoms you describe are compatable with a mitochondrial myopathy such as MELAS, MERFF, etc. These mitochondrial disorders can be associated muscle fatigue, peripheral neuropathies (tingling of the feet/toes), seizures, migraine headaches and stroke-like episodes.
I would recommend that you see a metabolic/genetic neurologist (in major academic centers only) to test you for the common mitochondrial genetic defects, assess your serum/urine amino acids, urine organic acids and a MRI of your brain. An EMG to evaluate your tingling feet would also be helpful. Pain is common in all myopathies, but stiffness is non-specific and can be related to your muscles, a brain process causing spasticity, or joint disease. Treatment for mitochrondrial myopathies is limited at this time to vitamins to enhance mitochondrial funtion including Co Q10, B-vitamins, and carnitine. Mitochondrial disorders are a multi-system disorders (brain, heart, neuro-muscular, internal medicine etc) and require a team approach.
As far as your ANA is concerned, the speckled pattern is non-specific and is seen in many disorders including SLE, scleroderma, mixed connective tissue disorder, thyroiditis, etc. A 1:640 is a high titer and is concerning. I would definitely see your rheumatologist again and have your ANA rechecked, (if due to your thyroid, it may be a lower titer now). You should also have a SSA/SSB, etc panel run (probably already done once by your rheumatologist). A paraneoplastic panel may also be useful. If you continue having joint pain, maybe a joint aspiration with help determine if this is an inflammatory condition.
I hope this has been helpful.
1- the muscle biopsy is a gold standard for the diagnosis in your case , as few other things aprat of mitochodrial dysfunction could cause a proximal myopathy and respiratory muscle weakness with more frequent myalgia
2-Myalgia is generally a rare symptom in myopathy and suggests orthopedic and rheumatic causes especially if noprmal CK!
3- CK could falsely be normal in case of end stage myopathy with atrophied muscles or if using steroids or if the cause is hyperthyroidism
In brief, yes you should see a rheumatologist again
I have been diagnosed with cardio myopathy. I also have been diagnosed with motor/sensor peripheral neuropathy. my heart specialist is questioning whether i suffer from a neuropathy or a myopathy. I have little reflex and am losing muscle in my feet and hands. I cannot keep my balance. My question is what type of doctor do i see. a neurological specialist or is there another type of specialist that may get to the bottom of this. does a neurological specialist treat both neuropathies and myopathies? I am waiting for suggestions before i start my search. my condition is worsening on a weeky basis. it is hard for me to lift my feet. thank you for any advice you can give me. I also notice my speech is worsening and i get confused very easily. i am 58. my father had similar symptoms.
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