Is there information linking mixed connective tissue disorder to charcot marie tooth syndrome?
I am female in mid 40's, recently have had polyarthritis, raynaud's (in my feet) in the past few weeks. I have a chronic soft tissue injury to both wrists(~5years). I'm currently being treated for these problems, but now have polyarthritis symptoms. I have had persistent oral ulcers on the soft palette 2 months ago(resolved now) that followed a severe viral lung infection.
Stiffness and pain in both hands has worsened in the past 3 month's to where I cannot work. X-rays of both hands show no abnormalities, except old healed fracture in right wrist.
I have a brother who has had charcot marie tooth syndrome (type never determined) for 10 years. His neurological signs started when he was my age (mid forties). I have passed a basic neuro. exam with nerve conduction test.
It seems to be a large coincidence that we have both developed a somewhat crippling condition at approximately the same age. Is there any chance that our respective problems are related? Neither of us have a confirmed diagnosis for our problems. Thank you in advance, for any information.
Answers from our Doctors
Charcot Marie Tooth neuropathy is recognized as a genetically based, often inherited process. There is no evidence in the literature of the association of these neuropathies and inflammatory arthritis or connective tissue diseases.
The writer describes symptoms suggestive of a connective tissue process present in herself, with a brother with a neuropathy. In the setting of our current knowledge, I believe that it is coincidental that 2 members of the same family have developed different diseases at about the same age in their early 40's.
After prolonged neuropathy and associated weakness, joint contractures may occur, but the findings are very different from a true inflammatory arthropathy.
I hope that I have answered your question, and I wish both you and your brother well regarding your health care.
Kind Regards,
Mary-Ann Fitzcharles
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I have been Dxed w/ both CMT1A, and clinically w/ EDS. I also have been Dxed w/ Fibromyalgia, Arthritis, and Chronic Fatigue Syndrome. My Mother, Daughter, and Son have also been Dxed. with both CMT and EDS. CMT has effected us since childhood w/ significant limitations. Genetic confirmation has not been done for EDS. Our fingers and wrists bend back significantly beyond normal range. My wrists and fingers dislocate easily. There is some hyperextension of various joints with my children and me. Our skin is quite soft, and it is normal for us to have bruises. My spine is a mess. My daughter is most pronounced w/ dislocations in her knees and ankles, and my son is in the hands and ankles. My knees and other joints are becoming more fragile. Unlike my Mother, the rest of us have very flat feet, not the typical presentation w/ CMT. My Mother has Raynauds/Purpura in her lower legs, early Mylodysplasia, Sjrogens, and has suffered w/ Polymyalgia. Her heart has had many vessel problems. There may be an unidentified form of Vascular EDS. (some questionable minor vascular findings, not part of the known Vascular types of EDS) We have a variety of findings that vary between us, far too lengthy to list. Perhaps there is a connective tissue link that may have an association w/ CMT?
Look up nail patella syndrome to see if it may be what is causing your issues. I have it and a lot of your problems I also have.... x
If your brother has CMT it's highly likely that you do. One whole side of my family suffers with mild to severe CMT. Usually the female is the carrier and it's a 50/50 for the male. So, based on my long family history and whT we know....which is extensive.....I'd say you have it.