What to Ask Your Neurologist About CMT1A at Your Check-Up

A neurology check-up for Charcot-Marie-Tooth disease type 1A (CMT1A) is a key opportunity to track your disease progression, manage daily symptoms, and avoid harm from outside factors. To get the most out of your 12- to 15-month appointment, consider keeping a brief symptom journal tracking falls, nerve pain, and fatigue in the weeks leading up to your visit. Bring this journal and use the following checklist to guide an empowering conversation with your care team.

1. Ask About Your Clinical Scores

The Charcot-Marie-Tooth Neuropathy Score (CMTNS) is a standard clinical tool neurologists use to measure how severe your symptoms are and track changes over time ^[1][2]. Ask your doctor for your current score and how it compares to your last visit. Because CMT1A progresses slowly, doctors might also use functional assessments like the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM) to evaluate your physical abilities, such as walking and balance, in adulthood ^[3]. Knowing these scores helps you understand the pace of your condition and whether your current management plan needs adjusting. Note that some community neurologists outside of specialized CMT centers may not use the CMTNS routinely, so do not be alarmed if your doctor prefers a different clinical assessment method.

2. Review Your Medication List for Neurotoxicity

People with CMT1A are at a higher risk for severe, sometimes irreversible nerve damage if they take certain medications ^[4][5]. This is called neurotoxicity. Because these drugs can directly worsen your underlying peripheral neuropathy ^[6], it is crucial to bring a complete list of all your current prescriptions, over-the-counter drugs, and supplements to your appointment. Ask your neurologist to review your list against updated evidence-based medical guidelines for drugs known to be neurotoxic or those that should be used with caution in CMT ^[4].

3. Discuss Physical and Occupational Therapy Referrals

Targeted muscle strengthening and physical therapy are core components of managing CMT1A. Evidence shows that physical therapy can effectively address pain, increase walking distance, and improve overall gait function ^[7][8]. Ask your neurologist if you need an updated referral for a physical therapist to work on mobility and strength, or an occupational therapist to help with hand function and daily living activities.

4. Have Your AFO Braces Checked

Ankle-Foot Orthoses (AFOs) are supportive braces that keep your feet and ankles aligned. Properly fitted AFOs, combined with targeted muscle strengthening, have been shown to improve walking speed and stride length ^[8][9]. However, changes in your foot shape or muscle tone over the year can alter how your braces fit. Ask your neurologist or orthotist to examine your AFOs to ensure they still provide optimal support without causing pressure sores or skin irritation. You may also want to discuss whether night splints would be helpful for managing foot tightness while you sleep.

5. Ask About Upcoming Clinical Trials

The treatment landscape for CMT1A is actively evolving, with investigational treatments aiming to correct the underlying biology of the disease by addressing issues like gene dosage and nerve insulation ^[10][11]. Clinical trials are exploring novel approaches such as gene therapies delivered via targeted vectors ^[12], lipid-based strategies ^[13], and targeted intramuscular injections like VM202 ^[14]. Furthermore, new trials are increasingly using modern tracking tools, like wearable sensors and nerve ultrasound, to precisely measure progress ^[15][16]. Ask your neurologist if there are any current or upcoming clinical trials you might qualify for, and whether participating makes sense for your specific situation.