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AUTUMN 2026 InTouch | 15 9. Weakness of the respiratory muscles is uncommon but can occur, particularly in more severe or early-onset forms, and may cause breathing difficulties. New or worsening shortness of breath should be discussed with your medical team, and in some cases assessment by a respiratory specialist may be helpful. 10. Another problem related to CMT can be scoliosis, or a curvature of the spine. This often becomes noticeable during puberty and tends to be more common in people with early onset of gait abnormalities. Hip dysplasia can also affect a small number of people with CMT at an early age. 11. The age of onset varies among the different types of CMT. Symptoms of CMT1 and CMTX often become apparent between the ages of five and fifteen, while CMT2 may present from childhood through adulthood. Severe early-onset forms (historically referred to as CMT3) and many forms of CMT4 usually begin before three years of age. The severity of symptoms can vary greatly from person to person even within the same family. Some people may only discover they have CMT during diagnostic testing. Diagnosis of Charcot-Marie- Tooth Disease Diagnosing CMT begins with a careful review of a person’s medical history and family history, followed by a neurological examination. Patients are asked about their symptoms, when they started, and whether other family members have similar problems. During the examination, the physician looks for common signs of CMT, such as weakness in the feet or hands, loss of sensation, reduced reflexes and high arches. Based on these findings, further testing may be recommended. Nerve and Muscle Testing Nerve conduction studies measure how fast and how strong electrical signals travel through the nerves. In demyelinating types of CMT (such as CMT1), signals travel more slowly than normal. In axonal types (such as CMT2), the speed may be near normal, but the signal strength is reduced. An electromyography (EMG) test may also be performed. This test measures the electrical activity of muscles and helps show how the nerves are affecting muscle function. Together, these tests help doctors better understand the type of nerve damage present. Genetic Testing Genetic testing is now widely available and is usually done using a blood or saliva sample. It can identify many of the known genetic causes of CMT. Newer testing methods have made it easier to find changes in genes that cause the condition. A positive genetic test can confirm the diagnosis and provide helpful information about how the condition is inherited and what it may mean for other family members. However, a negative test does not completely rule out CMT, since not all genetic causes have yet been discovered. After a child is diagnosed with CMT, genetic counselling is recommended. A genetic counsellor can explain how CMT is inherited, discuss the chances of other family members being affected, and review family planning options if desired. Management of Charcot- Marie-Tooth Disease Although there is currently no cure for CMT, many treatments can help improve function, comfort and quality of life. Management focuses on reducing symptoms, maintaining mobility and preventing complications. Care is best provided through a multidisciplinary team approach. After diagnosis, people with CMT may be referred to: • A podiatrist for foot care • An orthotist for braces or shoe inserts • An orthopaedic surgeon if corrective surgery is needed • A physical or occupational therapist for exercise programs and strategies to improve strength, balance and daily function. Orthotics and Bracing Shoe inserts, orthopaedic shoes and ankle–foot orthoses (AFOs) are commonly prescribed to improve stability, reduce falls and make walking more efficient. These devices WHAT IS CHARCOT-MARIE-TOOTH DISEASE? Genetic testing is now widely available and is usually done using a blood or saliva sample. It can identify many of the known genetic causes of CMT. Continued over ...