Charcot-Marie-Tooth disease (CMT) is the name given to a group of progressive, inherited disorders that affect the peripheral nerves. These are nerves outside of the central nervous system — or the brain and spinal cord — that carry signals between the brain and muscles to direct movement and transmit sensory information.
CMT is characterized by progressive muscle weakness, but other symptoms such as fatigue can greatly affect patients’ quality of life.
Fatigue in CMT
Fatigue is a common symptom in CMT. A study, published in the Journal of Neurology in 2010 and based on questionnaire given patients and an age- and sex-matched control group, reported that fatigue levels were significantly higher in people with CMT.
Fatigue in CMT can be due to a number of reasons. Many patients report having insomnia and/or sleep apnea, which significantly reduces the amount or the quality of sleep they can get. One study, conducted in 61 CMT type 1 patients, found that 37.7 percent had sleep apnea, and 40.9 percent had restless legs syndrome, which significantly reduces sleep quality.
In addition, engaging in physical activity can be difficult for people with CMT, as the body must work harder to compensate for weakened muscles. This uses more energy, and results in heightened feelings of tiredness.
There are various self-help techniques that may help manage fatigue in CMT patients. However, these can sometimes be difficult to achieve as CMT-related complications may prevent patients from following these suggestions. They include:
- Maintaining a healthy diet with smaller meals and regular snacks, and drinking more water
- Light but regular exercise
- A regular sleep pattern, with a hot bath before bed
- Maintaining a healthy weight
- Reducing stress through relaxing activities, and/or by talking about causes, such as in counseling
- Reducing or eliminating caffeine and alcohol from the diet
It was thought that ascorbic acid or vitamin C may ease fatigue and other symptoms of CMT, as it was shown to have some benefits in a mouse model of CMT type 1A (CMT1A). However, two randomized and controlled trials suggested that it lacked benefit in humans in terms of addressing fatigue or overall disease symptoms.
The first trial, whose results were published in The Lancet Neurology in 2009, tested the effectiveness of ascorbic acid compared to a placebo over a 12-month period in 179 patients with CMT type 1A. No significant difference in fatigue levels was observed between patients taking ascorbic acid and those given placebo. A second, larger trial in the UK (ISRCTN61074476) and Italy (EudraCT 2006-000032-27) assessed ascorbic acid compared to a placebo for two years in 277 CMT1A patients. Results of this study, published in 2011 and with a primary goal of seeing changes for the better in CMT-related neuropathy, also reported no significant effects from treatment.
A case series, published in the American Journal of Hospice and Palliative Care in 2006, reported that off-label use of modafinil in four CMT type 1A patients significantly reduced symptoms of fatigue. Modafinil is approved to treat problems such as sleep apnea, and may help to ease fatigue by improving sleep quality.
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