MDFSA Blog

Strength Isn’t Just Physical By: Abby Svoboda High school is tough. There’s pressure to figure out your future and fit in. As I personally learned, most people feel self-conscious. When […]

Building a Community of Support By: Stephanie & Jon Betts Our son, Henry James, came into the world at 37 weeks, just under 6 pounds, with a distinctly weak, chirping […]

By: Jenna Klotz, MD, MS, FAAP Muscular dystrophies are genetic muscle disorders which cause progressive muscle weakness. There are more than 40 different types. Symptoms can be present at birth […]

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause damage to the peripheral  nerves, leading to muscle weakness and sensory loss, primarily in the arms and legs. Overview Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders, affecting approximately 1 in every 2,500 people. It is also known as hereditary motor and sensory neuropathy. The  disease is named after the three doctors who first described it in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. Causes CMT is caused by genetic mutations that affect the peripheral nerves, which are responsible for  transmitting signals between the brain and spinal cord to the rest of the body. These mutations  can lead to damage in the nerve fibers or the myelin sheath that insulates them. There are over  30 known genetic causes of CMT, and the condition is inherited from one or both parents.  Symptoms Symptoms of Charcot-Marie-Tooth disease typically begin in adolescence or early adulthood and may include: Diagnosis and Treatment Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing. While there is currently no cure for CMT, treatments focus on managing symptoms and improving quality of life. Common approaches include: Conclusion Charcot-Marie-Tooth disease is a progressive condition that can significantly impact daily life, but with appropriate management and support, many individuals lead active and fulfilling lives. If you suspect you or a family member may have CMT, it is important to consult a healthcare professional for proper evaluation and guidance. Sources Mayo Clinic, Cleveland Clinic, Johns Hopkins Medicine. References https://www.bing.com/search?q=what+is+charcot+marie+tooth+disease&qs=SS&pq=what+is+charcot-marie-tooth+disease&sc=12-35&cvid=E024CD4C52C44522959000F8EDCDB8DA&FORM=QBRE&sp=1&lq=0