This systematic review searched four major databases to characterize the global epidemiology of Charcot-Marie-Tooth disease (CMT), the most common inherited neuropathy. Of 802 screened studies, only 12 met inclusion criteria, representing 11 countries. The review asks: how prevalent is CMT worldwide, and how are subtypes distributed across populations?
Before this review, the oft-quoted CMT prevalence of 1/2,500 was treated as a fixed number despite coming from a single 1974 study with no systematic validation across populations.
When you see a patient with childhood-onset cavovarus foot, distal leg weakness, and depressed reflexes, CMT belongs at the top of your differential. Nerve conduction velocity is the first diagnostic step: NCV <38 m/s points to CMT1 (demyelinating), NCV >38 m/s to CMT2 (axonal). This distinction directs targeted genetic testing — starting with chromosome 17p11.2 duplication for CMT1. And is essential for family screening and prognosis counseling.
Surgical management (tendon transfers, calcaneal osteotomy, plantar fascia release for cavovarus deformity) does not change based on subtype, but genetic confirmation matters for identifying at-risk family members.
Genetic testing is helpful for subtype classification but is not required for diagnosis. Some CMT forms have no identified mutation or lack commercially available tests, so a clinical-electrophysiological diagnosis remains valid.
This systematic review searched four major databases to characterize the global epidemiology of Charcot-Marie-Tooth disease (CMT), the most common inherited neuropathy. Of 802 screened studies, only 12 met inclusion criteria, representing 11 countries. The review asks: how prevalent is CMT worldwide, and how are subtypes distributed across populations?
Before this review, the oft-quoted CMT prevalence of 1/2,500 was treated as a fixed number despite coming from a single 1974 study with no systematic validation across populations.
When you see a patient with childhood-onset cavovarus foot, distal leg weakness, and depressed reflexes, CMT belongs at the top of your differential. Nerve conduction velocity is the first diagnostic step: NCV <38 m/s points to CMT1 (demyelinating), NCV >38 m/s to CMT2 (axonal). This distinction directs targeted genetic testing — starting with chromosome 17p11.2 duplication for CMT1. And is essential for family screening and prognosis counseling.
Surgical management (tendon transfers, calcaneal osteotomy, plantar fascia release for cavovarus deformity) does not change based on subtype, but genetic confirmation matters for identifying at-risk family members.
Genetic testing is helpful for subtype classification but is not required for diagnosis. Some CMT forms have no identified mutation or lack commercially available tests, so a clinical-electrophysiological diagnosis remains valid.