CMT Type 4
CMT Type 4 is an autosomal recessive demyelinating motor and sensory neuropathy. Currently, nine CMT4 subtypes and their genes have been identified including:
CMT 4A * CMT4B1 * CMT4B2 * CMT4C * CMT4D * CMT4E * CMT4F * CMT4H * CMT4J
Common CMT4 Symptoms:
Each CMT4 subtype is caused by a different genetic mutation and produces distinct physiologic and clinical characteristics.
CMT4 patients present with early onset and slowly progressing symptoms. Individuals with CMT4 generally develop leg weakness and lower limb muscle atrophy in childhood, and may lose the ability to walk by adolescence. Patients may also experience weakness and atrophy of their hands, sensory loss, and pes cavus (high-arched feet).
CMT4 Patient Spotlight:
Kristin is redefining what it’s like to live with CMT4. She was diagnosed with Charcot-Marie-Tooth in her late 20’s, but only recently discovered she has CMT4 as her subtype.
Although she must use loft strand crutches and a wheelchair to get around safely, Kristen is determined to be seen for who she is, rather than her disability:
“Having CMT has given my life limitations. Life gives us all limitations and I think it’s up to us to decide how we live.”
There is no treatment for CMT4 and its prevalence is also unknown at this time. The complex nature of this particular type of Charcot-Marie-Tooth makes symptom predictability and therapeutic development a challenge for CMT researchers.
But you can help these researchers meet this challenge head on.
If you or a family member have been diagnosed with CMT4, please consider joining the Global Registry For Inherited Neuropathies (GRIN).
HNF’s registry collects essential clinical and genetic information on patients diagnosed with the various forms of hereditary neuropathies in order to advance therapy development for these debilitating disorders. By completing your profile, your information will be utilized to advance research and clinical trials that could lead to future treatments and cures for all current and emerging subtypes of CMT4
Objectives for 2014-2018
HNF had the opportunity to connect with Kathleen Bogart, PhD, the Principal Investigator of the Adults with Rare Disorders Support Study in partnership with the National Organization for Rare Disorders (NORD). She is an Assistant Professor of Psychology at Oregon...
Kristin is redefining what it’s like to live with Charcot-Marie-Tooth disease. Determined to be seen for who she is, rather than her disability, Kristin faces the daily challenges of CMT head on with grace, dignity, and perseverance.
Kristin’s story not only shows us how she is redefining herself, but how she is giving others living with CMT the courage to do the same. Let’s learn more about Kristin and how she’s breaking down the barriers of CMT.