Managing Chronic Pain with Charcot-Marie-Tooth Disease
Updated: Nov 29
Managing Chronic Pain with Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth (CMT) disease is a complex neurological disorder that causes progressive muscle weakness and loss of sensation in the feet and hands. Also known as hereditary motor and sensory neuropathy, it is one of the most common inherited nerve diseases, affecting approximately 1 in 2,500 people.
While there is currently no cure for CMT, various treatments can help manage symptoms and improve quality of life. One of the most challenging aspects of living with CMT is coping with chronic neuropathic pain.
I am dedicating this article to my patients who are suffering with CMT. I want them to know that I will never stop searching for solutions. In this blog post, we’ll explore the causes of pain in CMT, provide an overview of treatment options, and share actionable tips for finding relief.
What Is Charcot-Marie-Tooth Disease?
CMT was first described in 1886 by the three physicians it's named after - Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth. It refers to a group of disorders caused by genetic defects that produce abnormalities in the nerves of the peripheral nervous system.
There are a few key characteristics of CMT:
It is passed down through families, usually with an autosomal dominant inheritance pattern.
Onset usually occurs in adolescence or early adulthood.
It causes progressive distal muscle weakness and atrophy, often beginning in the feet and ankles.
Sensory loss occurs in the feet and spreads to the legs and hands.
Foot deformities like high arches and hammertoes frequently develop.
Loss of reflexes, especially at the ankle, is another common symptom.
While some types of CMT can affect life expectancy, most follow a relatively mild course over decades. Supportive treatments can significantly improve quality of life.
Charcot-Marie-Tooth Disease Diagnosis
CMT is diagnosed through a combination of:
Family history of similar neuropathy symptoms
Clinical evaluation of motor and sensory nerve problems
Nerve conduction studies checking abnormal speed and response of peripheral nerves
Electromyography assessing muscle and nerve root health
DNA testing to identify known CMT gene mutations
There are no definitive cures yet, but an accurate diagnosis allows genetic counseling and tailored management.
What Causes Pain in Charcot-Marie-Tooth Disease?
There are a few primary mechanisms that are thought to contribute to painful symptoms:
The degeneration of sensory nerve fibers leads to neuropathic pain. This nerve damage alters pain signaling to the brain.
Weakness and mechanical instability from muscle loss place excess stress on joints and soft tissues, leading to overuse injuries and nociceptive pain.
Compressive nerve injuries called entrapment neuropathies may also develop, causing burning, tingling or numbness.
Scoliosis, or curvature of the spine, occurs in 10-20% of CMT patients as a result of muscular imbalances and can be a source of pain.
In many cases, pain is likely multifactorial - stemming from a combination of nerve dysfunction, musculoskeletal overuse and secondary complications like contractures or foot deformities.
The specific symptoms of Charcot-Marie-Tooth disease pain can help determine potential sources. For example:
Burning, electric shock-like feelings in the feet may indicate neuropathic pain from peripheral nerve degeneration.
Aching or throbbing in the ankles, knees or hips may be nociceptive pain from arthritis, muscle tightness or joint misalignment.
Tingling or numbness following a specific nerve territory could signal an entrapment injury like carpal or tarsal tunnel syndrome.
Understanding the complex causes of pain is the first step toward targeted symptom management.
Treatment Options for CMT Pain
While more research is still needed, current treatment strategies focus on:
Orthotics and braces
Physical and occupational therapy
Surgery in some cases
The goal is to improve the biomechanics of movement, strengthen muscles, decrease inflammation, and modulate neurological pain signaling. A multidisciplinary approach is usually needed.
Medications for Symptoms and Neuropathic Pain
Certain prescription medications may provide relief from neuropathic symptoms:
Anticonvulsants like gabapentin or pregabalin
Tricyclic antidepressants (TCAs)
Serotonin-norepinephrine reuptake inhibitors (SNRIs) like duloxetine, desvenlafaxine and venlafaxine
Topical lidocaine patches or capsaicin cream
NMDA receptor antagonists like ketamine, dextromethorphan, and memantine
Over-the-counter painkillers like NSAIDs are generally not effective for nerve pain but may temporarily reduce nociceptive symptoms related to overuse or arthritis.
Custom orthotic inserts and supportive braces can improve gait, posture and biomechanical alignment. This helps take pressure off irritated nerves and prevents deformities like high arches and curled toes.
Ankle-foot orthotics (AFOs) are particularly useful for stabilizing ankles affected by foot drop. Knee braces may also be warranted if knee or hip alignment are significantly altered.
Physical and Occupational Therapy
Stretching, strengthening exercises, manual therapy techniques, and re-training of motor patterns are key components of physical therapy for CMT. This helps maintain flexibility, muscle performance and joint mobility.
Occupational therapy focuses on adapting activities of daily living and learning to use assistive devices as needed. Protecting hands from overuse with wrist splints or specialized tools can help prevent exacerbations.
Surgical interventions like joint arthrodesis, tendon transfers or osteotomies may be considered for severe foot deformities causing significant pain. Procedures to decompress entrapped nerves are also sometimes performed.
Tips for Living with CMT Pain
Learning to manage neuropathic and musculoskeletal pain associated with CMT involves patience, perseverance, and self-advocacy. Here are some suggestions for minimizing pain and optimizing function:
Stay as active as possible with regular stretching, low-impact exercise and activity modification as needed. Inactivity can make symptoms worse.
Use custom orthotics and supportive shoes, even in the house. Replace shoes frequently as cushioning breaks down.
Evaluate ergonomics and take breaks from repetitive hand tasks to prevent overuse. Use wrist splints as needed.
Perform gentle range of motion exercises for ankles, knees, hips and fingers to maintain mobility of joints and prevent contractures.
Try heat, ice, massage, gentle traction or TENS to relieve muscle tightness and nociceptive pain from overuse.
Elevate feet to decrease swelling. Avoid prolonged pressure on feet.
Treat minor foot irritations like calluses or blisters promptly to prevent infections and complications.
Work with a physical therapist to improve strength, flexibility, balance and body mechanics.
See a podiatrist regularly for foot care. Discomfort from hammertoes, bunions or high arches can worsen gait.
Meet with an occupational therapist to learn energy conservation tips and adaptive techniques.
Prioritize good sleep habits and stress management skills. Fatigue and stress can amplify pain.
Keep notes on flare-ups to identify lifestyle triggers like activity overexertion.
Connect with others in the CMT community for empowerment and support. You're not alone!
The Importance of Self-Advocacy
Since CMT is rare, some medical providers may not fully grasp the extent and impact of neuropathic pain associated with the disease. Being your own best advocate is crucial.
Educate your providers about CMT and the need to proactively treat chronic pain.
Keep a detailed pain diary noting location, descriptions, severity, triggers and relieving factors.
Ask questions and request referrals to pain specialists if needed.
Don't downplay your challenges, but focus the conversation on solutions.
Bring a support person to appointments when possible.
Get involved with the Muscular Dystrophy Association
Dealing with CMT requires patience with the process and yourself. There will be ups and downs. Pace activities appropriately and celebrate small victories. Though CMT has no cure yet, ongoing research provides hope. In the meantime, there are many ways to take control of pain management and live life vibrantly. You've got this!
1. Azevedo, H., Costa, H., Davidovich, E., Pupe, C., & Nascimento, O. J. M. (2021). Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A. Arq Neuropsiquiatr, 79(5), 415-419. https://doi.org/10.1590/0004-282X-ANP-2020-0132
2. Azevedo, H., Pupe, C., Pereira, R., & Nascimento, O. J. M. (2018). Pain in Charcot-Marie-Tooth disease: an update. Arq Neuropsiquiatr, 76(4), 273-276. https://doi.org/10.1590/0004-282x20180021
About the author:
Dr. Harold Pierre is a board-certified anesthesiologist and addiction medicine specialist with over 20 years of experience. He is board-certified by the American Board of Anesthesiology and the American Board of Preventive Medicine.
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