At first glance, Charcot-Marie-Tooth disease (CMT) and autoimmune diseases may seem similar. Both can cause nerve damage, muscle weakness, and mobility challenges. However, they have entirely different causes, progressions, and treatment approaches.
Let’s explore what sets CMT apart from autoimmune disease and why this distinction matters.
What is CMT?
Charcot-Marie-Tooth disease (CMT) is named after the three doctors who first described the disease in 1886: Jean-Martin Charcot (shar-coh), Pierre Marie, and Howard Henry Tooth. Today, CMT refers to any peripheral neuropathy with a genetic cause, whether or not the specific genetic mutation is known.
CMT is a rare multisystem, multiorgan disease that causes lifelong, progressive symptoms, including muscle weakness and atrophy in the arms and legs, sensory loss, and other complications. These symptoms often lead to challenges with balance, walking, hand use, and other daily activities.
What is an Autoimmune Disease?
Autoimmune disease occurs when the body’s immune system mistakenly attacks its cells and tissues, leading to inflammation and damage. There are more than 80 autoimmune diseases, including ones that share some symptoms with CMT, such as multiple sclerosis (MS), and chronic inflammatory demyelinating polyneuropathy (CIDP). However, unlike CMT, these diseases are not inherited and often respond to treatments that suppress the immune system.
Key Differences Between CMT and Autoimmune Diseases
While both CMT and autoimmune diseases can affect the nerves and muscles, their causes, progression, and treatment approaches are entirely different.
Cause of Nerve Damage
- CMT: Caused by genetic mutations that affect the peripheral nerves. Over time, nerve damage leads to muscle weakness and sensory loss.
- Autoimmune Disease: Caused by the immune system attacking the body’s normal cells, leading to inflammation and nerve or muscle damage.
Pattern of Progression
- CMT: Symptoms progress slowly over a lifetime. Some individuals experience mild changes, while others develop significant weakness, balance issues, mobility challenges, and more.
- Autoimmune Disease: Often progresses in unpredictable patterns, with symptoms that flare up or worsen rapidly, sometimes followed by periods of improvement.
Treatment Approaches
- CMT: No approved treatments to stop or slow symptom progression. Management focuses on physical therapy, orthotics, bracing, and symptom management.
- Autoimmune Disease: Many autoimmune diseases respond to treatments that suppress the immune system, such as corticosteroids or plasma exchange.
Inheritance vs. Triggers
- CMT: Always caused by genetic mutations, which can be inherited in dominant, recessive, or X-linked patterns.
- Autoimmune Diseases: Genetics may play a role, but environmental factors, infections, or unknown triggers often cause the immune system to attack the body’s normal cells and tissues.
Why CMT is Not an Autoimmune Disease
Although CMT and autoimmune diseases can affect the nerves and muscles, they are fundamentally different.
- CMT is a genetic peripheral neuropathy: the problem starts with gene mutations that affect the peripheral nerves’ structure or function. Over time, nerve damage leads to muscle weakness, sensory loss, and mobility challenges.
- An overactive immune system causes autoimmune diseases: the body mistakenly attacks its own healthy cells, leading to inflammation and nerve or muscle damage.
CMT does not involve the immune system, does not have periods of remission or flare-ups, and does not respond to immune-suppressing treatments like corticosteroids or plasma exchange.
Knowing this distinction is critical to ensuring individuals with CMT receive the correct diagnosis, care, and support.
Final Thoughts
Misconceptions about CMT and autoimmune diseases are common, but understanding their fundamental differences is essential for accurate diagnosis and care. CMT is a genetic disease of the peripheral nerves, not an immune disorder, and recognizing this distinction ensures individuals with CMT receive the most appropriate medical care and support.
Want to learn more? Take a deeper dive on our What is CMT page.
Accurate diagnosis and expert care are key to managing CMT. Each CMTA Center of Excellence provides comprehensive specialty care and can help navigate the genetic testing landscape.
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