← Return to CMT=Charcot Marie Tooth Disease Type 2 Neurological Disorder form of MD

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@barbbie

Have just been dx with Cavovarus foot deformity, which often results from an imbalance of muscle forces, is commonly caused by hereditary motor sensory neuropathies. This dx came when some how I injured myself and I don't know how or when and ended up with ridiculous pain and swelling in the peroneal tendon. I looked up the term cavovarus and that reminded me of what I saw growing up. I believe my mother, her cousin, and aunt all had Charcot Marie Tooth simply first of all by appearance and then by increasing weakness and loss of muscle in both legs.
I have also been dx with small fiber neuropathy by two biopsies, as well as CRPS in both feet. I drop things on a regular basis without realizing it until the object is on the ground. I need to hold a pen and write daily or writing is not legible.

I am most concerned about my 16 yr old granddaughter as I feel she has inherited this. I have already spoken to our PCP, a very talented DO, about this and have an upcoming appt. I would love to hear from anyone who has any experience with this.

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Replies to "Have just been dx with Cavovarus foot deformity, which often results from an imbalance of muscle..."

Looks like there is a definitive test:
Found this:-We report a 14-month-old toddler. The child presented with symptoms such as unsteadiness and ataxic gait along with decreased motor and sensory action potentials of the limbs. As the father of the child was diagnosed with Charcot-Marie-Tooth 1A disease, a genetic analysis of the PMP22 GENE was performed confirming the diagnosis of Charcot- Marie-Tooth 1A in the child, too.
This case underscores the significance of an appropriate neurological assessment.

Hi, @barbbie - I moved your post here to this existing discussion on Charcot Marie Tooth so you can speak to others like @artmom78 @johnbishop @jtring @greengrandma and they can share their experiences with you. They may also be able to share anything they've learned or witnessed about the heritability of this disease.

How is your mobility currently?