What is the morbidity of Charcot-Marie-Tooth (CMT) disease?

Updated: May 22, 2018
  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Most people with CMT have a normal life expectancy, the exceptions being patients with respiratory involvement or severe disability. Disability varies greatly both between and within families, and can range from asymptomatic with minimal examination findings to severe. Marked differences in clinical severity have even been reported in monozygotic twins with CMT1A (despite similar nerve conduction velocities) [58] and myelin protein zero mutations [59] .

A 2001 study showed that 44% of CMT1A patients were significantly disabled, and 18% were depressed. It was estimated that CMT1 patients suffer emotional stress similar to patients with stroke and comparable disability. [60]

CMT is nearly always slowly progressive. A longitudinal study showed steady progression in nerve conduction velocity and disability, and severity could be predicted based on nerve conduction velocity abnormalities in childhood. [61] Killian and colleagues studied nerve conduction velocities and neurologic examinations in 8 members of a single family over 22 years and found minimal progression of disability. [62] Another study of 43 patients with CMT2 over 5 years documented slow progression of weakness and disability, and most patients remained ambulatory. [63]

As CMT is relatively common, it can occur with other inherited or acquired neuromuscular conditions. If progression accelerates, these possibilities should be pursued. [64]


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