Charcot-Marie-Tooth - How to Help Your Loved One with CMT

Charcot-Marie-Tooth (CMT) is a genetic neurological disorder that affects the peripheral nerves, resulting in muscle weakness. This disease was named after the three scientists who discovered it in 1886. Although it's not life-threatening, it is a progressive condition that can make daily living more difficult than necessary. 

CMT is an inherited condition that damages the peripheral nerves outside the brain and spinal cord. According to the Muscular Dystrophy Association, it affects millions globally and is the most common inherited neuropathy. CMT is considered one of the most common inherited neurological disorders, affecting an estimated 126,000 to 150,000 individuals in the U.S.

Diagnosing CMT involves a multi-pronged approach. Doctors typically consider a patient's family history, a detailed physical examination focusing on muscle weakness and sensory loss, and nerve conduction studies that measure electrical signals in nerves. National Institute of Neurological Disorders and Stroke. Genetic testing can pinpoint the specific CMT type, helping with prognosis and future family planning.

Whether you're the primary caregiver or a concerned family member for a person with CMT, here are a few tips to help you efficiently care for your loved one so they can live comfortably and independently. 

Education and Spectrum of Symptoms in CMT

Information can be powerful when battling any medical condition. To efficiently care for your loved one with CMT, you must first familiarize yourself with this congenital disease. Learn the different types and subtypes of CMT, as each has different symptom patterns and causes. Common types include CMT1, CMT2, CMT3, CMT4, and CMTX1. 

Charcot-Marie-Tooth (CMT) disease is a group of inherited neuropathies that affects the peripheral nerves outside the brain and spinal cord. Symptoms can vary depending on the specific type and severity of CMT, but some common themes emerge. 

Here's a breakdown of the key symptom categories:

Motor Symptoms:

• Muscle weakness: The first noticeable symptom, typically beginning in the feet and lower legs, is muscle weakness. Weakness can progress to the hands and arms in some cases.
• Foot drop: Weakness in the muscles that lift the foot at the ankle joint is called 'foot drop'; it makes it difficult to raise the toes while walking. This can lead to a slapping gait and frequent tripping.
• Muscle wasting (atrophy): As muscles weaken from lack of use, they shrink in size, called atrophy. This can be noticeable in the lower legs, giving them an "inverted champagne bottle" appearance. 
• Gait abnormalities: A combination of muscle weakness, foot drop, and balance problems can lead to an altered walking pattern. This might involve a high-stepping gait to clear the dropped foot or a wider stance for improved stability. 

Sensory Symptoms:

• Numbness and tingling: Damage to sensory nerves can cause a loss of feeling, particularly in the feet and hands. This can range from mild tingling to complete numbness.
• Burning pain: Some people with CMT experience chronic burning pain in the hands and feet. This can be a significant source of discomfort and may require specific pain management strategies. 
• Balance problems: Loss of sensation in the feet can make it difficult to feel the ground and maintain proper balance. These balance problems in CMT can lead to clumsiness, frequent falls, and a fear of falling. 

Other Potential Symptoms:

• Scoliosis: Curvature of the spine can occur in some CMT types, potentially due to muscle weakness affecting posture. 
• Fatigue: The extra effort required for daily activities due to muscle weakness and gait abnormalities can increase fatigue. 
• Claw or hammertoes: Muscle weakness and imbalances can cause toes to curl inwards, creating claw or hammertoe deformities. 

Progression and Variability

It's important to remember that CMT is a spectrum disorder. The severity and progression of symptoms can vary significantly between individuals, even within the same family. Some people may experience mild symptoms that progress slowly, while others may have a more rapid decline in mobility. 

Early diagnosis and appropriate management can help slow the progression and improve the quality of life for those living with CMT.

Build a Support System

Since CMT can be a challenging journey, your loved one must have a strong support system behind them. Seek help from your loved one's friends, relatives, spiritual mentors, and other trusted individuals who can provide your loved one with constant encouragement and unconditional support. Search for online support groups dedicated to people with CMT to help you gain more insights about this inherited disorder. 

Explore Treatment Options

While there's no cure for this lifetime disease, various treatment options are available to help make your loved one's symptoms more manageable. Physiotherapy and occupational therapy are the most common treatment options for CMT. Your loved one can also invest in walking aids or other assistive devices to help them get around much easier. Surgery is also advised for more complicated CMT cases. 

Mental and Emotional Health

Individuals battling CMT face multiple challenges daily. Aside from the physical hurdles, they are also at risk of suffering from mental and emotional issues, which can progress to more serious conditions if left untreated. Talk with your loved one regularly and gently encourage them to communicate their innermost thoughts and feelings. If they're hesitant to open up, motivate them to seek professional help from licensed therapists or counselors. 

Taking Care of Somone with CMT

Tending to a loved one dealing with a severe medical condition can take a toll on your health and overall well-being. Remember to make time for yourself and refrain from placing your own needs in the backseat for the benefit of others. Continue advocating for your loved one, but make sure you're not compromising yourself in the process. 

While there's no cure for CMT, treatment focuses on managing symptoms and maintaining mobility, often creating the need for long-term care services. Common care approaches include:

• Physical therapy: Strengthens muscles, improves balance, and teaches gait retraining techniques
• Occupational therapy: Provides training on adaptive devices and strategies for daily living tasks
• Orthotics and braces: Support weakened ankles and feet, improving gait and function
• Pain management: Medications and physical therapy can help manage nerve pain

In advanced cases, assistive devices like canes, walkers, or wheelchairs may be necessary. Home modifications like grab bars and ramps can also enhance safety and independence.

Living with CMT

CMT is a lifelong condition, but with proper management, many people with CMT lead active and fulfilling lives. Early diagnosis, a supportive health team, and access to appropriate long-term care services can significantly improve the quality of life for those navigating this inherited nerve disorder.

Remember, since health insurance and Medicare, including supplements, pay for short-term skilled services, most long-term care for those with CMT will come out of pocket unless the care recipient has LTC Insurance. 

If you already have CMT, you would be ineligible to obtain LTC Insurance coverage. Long-Term Care Insurance has medical underwriting, so you must obtain coverage when you are relatively healthy. 

Caring for a loved one with CMT can be challenging. With proper information and a strong support group, you can significantly help them maintain their independence and enhance their quality of life. However, professional care will be required due to the demands of being a caregiver. 

You can find quality long-term care services for a loved one by using the LTC NEWS Caregiver Directory, which allows you to search from over 80,000 providers nationwide.