Recognizing Charcot-Marie-Tooth in the Primary Care Setting: An Overview

How Can I Educate a Patient Living With CMT?

Education on proper shoe wear is essential. People with CMT are often fatigued after several hours on their feet, so providing an avenue to keep their feet comfortable with an orthopedic shoe can lead to decreased occurrences of falls, decreased pain, and increased gait velocity.

Another essential educational point is the incorporation of regular exercise routines. Difficulties and fatigue during exercise can be frustrating, but studies prove that physical therapy and resistance exercise increases muscle strength and improves timing of execution of activities of daily living.¹⁷ Resistance exercises can also play a role in reducing disease progression; therefore, healthcare providers should encourage patients to exercise regularly, explain the benefits of doing so, and refer patients to physical therapy to incorporate a low-intensity program into the treatment plan.

What Is the Prognosis of Patients With CMT?

Most commonly, patients diagnosed with CMT experience a slow clinical progression that begins with lower extremity muscle imbalance and leads to weakness. Sensory changes in vibration, pain, thermal, and proprioceptive sensitivities can follow with disease progression. In some cases, the upper limbs are later affected with intrinsic muscle atrophy starting distal to proximal.¹³

Overall, the severity and course of the disease varies from patient to patient. Many patients have mild to moderate disabilities, with some experiencing severe disabilities such as skeletal deformities that drastically affect quality of life.¹³ As with many disease processes, the presenting signs and symptoms influence the patient’s prognosis.

A patient only complaining of lower extremity weakness may have a better prognosis than one who also has changes in sensation and grip strength, and complaints of tripping. The earlier a treatment plan can be initiated, the higher the likelihood of being able to slow or even reverse disease progression.¹³ In the majority of cases, patients live a normal life with limitations on certain daily activities as the disease progresses.

Conclusion

When treating a patient with peripheral neuropathy and weakness of unknown origin, it is important for the primary care provider to consider CMT as a differential diagnosis due to it being the most common genetic motor and sensory neuropathy.

While CMT is likely not fatal, it can severely affect quality of life. Diagnosing CMT is possible with nerve conduction studies and genetic testing. Treatment consists of insoles, ankle-foot orthoses, physical therapy, muscle strengthening, and other supportive therapies to increase comfort.

Disease progression and severity can be slowed with earlier diagnosis and treatment. Many providers choose to refer patients to neurology for diagnostic testing and follow-ups. Ultimately, it is often the responsibility of the primary care provider to recognize the initial signs and symptoms of CMT and to initiate an effective treatment plan.

Brandon Henke, PA-C, graduated in the class of 2020 from Augusta University and is currently working in the urgent care specialty. Alicia Elam, PharmD, is an associate professor, Physician Assistant Department, Augusta University, Augusta, Georgia.

References

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5. Ward CM, Dolan LA, Lee Bennet D, Morcuende JA, Cooper RR. Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 2008;90(12):2631-2642.

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13. Augusto Maranho D, Batista Volpon J. Acquired pes cavus in Charcot-Marie-Tooth disease. Rev Bras Ortop. 2015;44(6):479-486.

14. Prada V, Schizzi S, Poggi I, et al. Hand rehabilitation treatment for Charcot-Marie-Tooth disease: an open label pilot study. J Neurol Neurophysiol. 2018;9(4):465.

15. Menotti F, Laudani L, Damiani A, Mignogna T, Macaluso A. An anterior ankle-foot orthosis improves walking economy in Charcot-Marie-Tooth type 1A patients. Prosthet Orthot Int. 2014;38(5):387-392.

16. Phillips MF, Robertson Z, Killen B, White B. A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-Tooth disease. Clin Rehabil. 2012;26(6):534-544.

17. Corrado B, Ciardi G, Bargigli C. Rehabilitation management of the Charcot-Marie-Tooth syndrome: a systematic review of the literature. Medicine. 2016;95(17):e3278.

This article originally appeared on Clinical Pain Advisor