CMT4J currently has no treatment and no cure. Through our close work with expert scientists and clinicians CureCMT4J has identified a pathway towards a cure using cutting-edge gene therapy. Preclinical work at The Jackson Laboratory has shown great success using gene therapy to treat CMT4J mouse models. CureCMT4J continues to raise funds to advance toward a first-in-human gene therapy clinical trial.
But until there is a cure, patients and families living with CMT4J need to be aware of potential complications from CMT4J. It is important to communicate onset or progression of symptoms with your health care providers. Screening for future, potential aspects of the disease may also be important. The following is information you might find helpful to discuss with your health care team.
Please note that the information on this site is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment.
STANDARDS OF CARE:
Neurotoxic Medications – It is widely accepted in the understanding of Charcot Marie Tooth diseases that certain medications can be harmful to the nervous system, triggering or exacerbating CMT-related neuropathy. Both the CMTA and HNF have a list of these potentially neurotoxic medications. Discuss any new medications with your health care provider first.
CMTA Neurotoxic Med List: https://www.cmtausa.org/resource-center/treatment-management/neurotoxic-medications/
Hereditary Neuropathy Foundation Neurotoxic Med List: https://www.hnf-cure.org/neurotoxic-drugs/
Scoliosis – people with CMT4J tend to have a higher risk of developing scoliosis, an abnormal curvature of the spine. This is due to weaker muscles. Specialists recommend screening and treatment of scoliosis. Treatment may include bracing, sometimes called a body jacket or a TLSO. Advanced scoliosis may indicate the need for surgery.
Respiratory Compromise – CMT4J, and many other forms of CMT, are known to cause a decrease/compromise in respiratory function as the disease progresses. Restrictive lung disease may develop from weakening breathing muscles. For this reason, the following tests may be helpful:
PULMONARY FUNCTION TESTS – both standing/sitting and lying down are important to monitor.
END-TIDAL CO2 – is an important indicator of progressive restrictive lung disease due to CMT4J. Many people with CMT4J can retain too much carbon dioxide (CO2) due to shallow breathing. Because of this, caution should be taken during illness and/or urgent/emergency care in the setting where oxygen (O2) is recommended. Giving too much oxygen can cause severe respiratory distress or respiratory failure.
CHEST X-RAY – may be recommended for a person with CMT4J.
SLEEP STUDY – may help to address respiratory issues related to sleep, as well as to aid in establishing appropriate settings for any supplemental respiratory equipment.
BIPAP OR CPAP – may be indicated for respiratory complications
CMTA RESOURCE RE: PULMONARY CARE OF PEOPLE WITH CMT: https://www.cmtausa.org/living-with-cmt/managing-cmt/pulmonary-care/
REFERENCE PAPER REGARDING NON-INVASIVE RESPIRATORY MANAGEMENT OF PEOPLE WITH NEUROMUSCULAR DISEASES: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608659/
Bracing and Orthotics – many people with CMT4J and other forms of CMT require special bracing on their feet, ankles, legs, or hands. Your Neurologist can work closely with Orthopedic and Orthotic specialists to provide the best support for you.
Anesthesia and Surgery – there is continued discussion over concerns of certain types of anesthesia used in people with CMT. Discuss any plans for surgery or dental work requiring anesthesia with your Neurologist.
NIH: 2014 update for abolishing special review for gene therapy trials:
Relevant paper on parent-driven research models:
Drug development roadmap, from Global Genes:
Overview of Charcot Marie Tooth Diseases