Charcot Marie Tooth disease affects the nerves due to inherited genetic changes. This condition leads to muscle weakening and shrinking. You may experience difficulty with movement and lose the ability to sense your muscles contracting. Symptoms often start in the feet and legs, but can eventually affect the hands and arms as well.
In some cases, these nerve abnormalities may cause damage. Certain forms of the disease harm the myelin sheath, the damage. Certain forms of the disease harm the myelin sheath, the protective layer around nerves. Both types of damage can result in weaker signals traveling from your brain to your limbs.
Sensory Loss
Charcot-Marie-Tooth disease can damage sensory nerve fibers (axons), leading to sensations like tingling and burning in the hands and feet. While this is usually mild, it can sometimes be painful.
Many individuals with CMT experience reduced sensitivity to touch or temperature changes. Yet, they may still have cold hands and feet, likely due to muscle loss in these areas that would otherwise help retain warmth. This reduced sensation makes it easy to overlook injuries to the hands and feet, which is why regular checks are essential to prevent infections.
Sensory loss in people with CMT often correlates with dry skin or hair loss in the affected areas, and in rare cases, it can lead to hearing impairment and even deafness.
Screening for Charcot-Marie-Tooth Disease
Diagnosing Charcot-Marie-Tooth disease requires a thorough approach involving a clinical evaluation, a review of family history, and specialized diagnostic tests. This comprehensive process plays a crucial role in identifying CMT and determining its specific subtype. It often begins with a detailed medical history and neurological exam to evaluate symptoms linked to peripheral nerve damage, a key indicator of CMT.
Tests like nerve conduction studies and electromyography are typically used to assess nerve and muscle electrical activity, helping distinguish between the main subtypes of the disease. Since CMT is genetic, genetic testing is an essential step that confirms diagnosis by identifying gene mutations associated with different forms of CMT. This not only provides clarity, but also aids in tailoring treatment plans, understanding inheritance patterns, and contributing to advancements in drug development research.
Muscle Weakness
People with CMT typically experience a gradual weakening and loss of muscle mass in the distal muscles. These are usually farthest from the body’s center. This most commonly affects the muscles in the feet, lower legs, forearms, and hands.
Weakness often starts in the feet and ankles, leading to foot drop, a difficulty in lifting the front part of the foot, causing the toes to point downward during walking. As a result, affected individuals may trip frequently and develop an abnormal gait as the weakness progresses and they attempt to compensate. While many cases of CMT-related tremor are mild and cause little discomfort or interference, some individuals may still notice its effects.
Treating CMT
Managing CMT involves a highly personalized approach to addressing symptoms. While there are currently no approved treatments for CMT, its diverse symptoms can often be effectively managed.
Each individual with CMT has unique needs. Symptom management may include physical and occupational therapy, the use of appropriate foot and ankle orthoses (AFOs), staying as active as possible, and surgical procedures to correct deformities in the feet or hands. These tailored strategies help support individuals in managing their condition.
Endnote
Charcot-Marie-Tooth disease is a group of inherited genetic conditions. Its impact varies widely from one individual to another, but with the right care and support, many people face minimal to no functional challenges. Those with CMT retain normal cognitive abilities and generally have a standard life expectancy.
