Charcot Marie Tooth Disease – Symptoms and Causes
What To Know About CMT Disease
Charcot-Marie-Tooth disease (CMT) is an inherited nerve disorder that mainly affects the arms and legs. This condition damages peripheral nerves, resulting in muscle weakness, reduced sensation, and movement difficulties.
People with CMT often develop foot problems like high arches and hammertoes.
CMT typically shows up during teenage years or young adulthood. Some people may not experience symptoms until middle age. As the disease progresses, symptoms usually start in the feet and legs before potentially moving to the hands and arms.
Treatment focuses on managing symptoms and maintaining quality of life. The following approaches are used:
- Physical therapy to preserve muscle strength.
- Occupational therapy for daily activities.
- Orthopedic devices like braces and special shoes.
- Pain management techniques and medications.
- Surgery in some cases to correct foot deformities.
While there’s no cure for CMT, these approaches help many people maintain mobility and independence despite the condition.
Symptoms
Charcot-Marie-Tooth disease shows up in several ways. People often experience weakness in their legs, ankles, and feet. The muscles in these areas may shrink over time.
Physical changes can include high foot arches and hammertoes (toes that curl downward). Many people notice they can’t run as well as before.
Common movement problems include:
- Footdrop (trouble lifting the foot at the ankle)
- Unusual walking pattern or higher steps
- Frequent trips or falls
- Reduced feeling in the legs and feet
As the condition progresses, these symptoms might spread from the feet and legs to the hands and arms. It’s important to note that symptoms vary greatly between individuals, even within the same family.
Causes
Charcot-Marie-Tooth disease stems from genetic mutations that are passed down through families. These mutations affect the nerves in the arms and legs in two main ways:
- Direct nerve damage – some mutations directly harm the nerves themselves.
- Myelin sheath damage – other mutations harm the protective covering (myelin sheath) around nerves.
Both types of damage weaken the signals that travel between the brain and limbs. When these signals become impaired, it leads to the weakness and sensory problems typical of this condition.
Risk Factors
Hereditary Factors:
- Family history plays a significant role in developing the disease
- Higher risk if immediate family members have the condition
Other Contributing Factors:
- Some conditions like diabetes can cause similar nerve symptoms
- These conditions may worsen existing symptoms
- Certain medications can increase symptom severity:
- Chemotherapy drugs like vincristine and paclitaxel
- Other prescription medications
Always inform healthcare providers about all medications you take. This helps them manage your treatment plan properly and avoid drugs that might worsen symptoms.
Complications
Charcot-Marie-Tooth disease can cause several complications that vary in severity among patients. The most significant issues typically involve foot deformities and walking difficulties.
As the disease progresses, muscle weakness may worsen. You might experience more frequent trips and falls because foot muscles don’t receive proper nerve signals to contract. This happens because the brain’s messages don’t reach the muscles effectively.
Another problem is decreased sensation. When you can’t feel pain properly, injuries like blisters may go unnoticed and develop infections before you realize something is wrong.
In some cases, Charcot-Marie-Tooth disease affects other important muscle groups. This can lead to:
- Breathing Difficulties
- Swallowing Problems
- Speech Challenges
These complications occur when the disease impacts the muscles controlling these essential functions. Healthcare providers will help manage these potential issues.
