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Stethoscope on the Cardiogram

CMT Centers of Excellence

Across the world, there are numerous hospitals and medical facilities that have been crowned as CMT Centers of Excellence

CMT is a complex disease which can be misdiagnosed for years. 

Fatigue or Daytime Sleepiness?

Feeling tired may sound like a simple concept, but medically there is a significant difference between the concepts of fatigue and daytime sleepiness


Daytime Sleepiness

Fatigue is medically defined as one of two things: 

  1. Weariness or exhaustion from labour, exertion, or stress

  2. The temporary loss of power to respond induced in a sensory receptor or motor end-organ by continued stimulation

In short, fatigue is what a person feels after they have undergone some sort of physical exertion, such as feeling tired after exercise. 


If you find yourself falling asleep during the day without having physically exerted yourself, or tired even after a perceived good night of sleep, this could be a sign of daytime sleepiness, also known as daytime somnolence. This is medically different from fatigue and defined as the inability to stay awake and alert during the major waking periods of the day, results in unintended lapses into drowsiness or sleep [1]

Centers of Excellence- CMTA

Diagnosing Daytime Sleepiness

To determine if a person is suffering from daytime sleepiness, also known as hypersomnia or daytime somnolence, a doctor may have a patient undertake the Epworth Sleepiness Scale, a modern tool for evaluating a patients symptoms, or undergo a sleep study 

Sleep disorders usually cannot be diagnosed quickly or without evaluation of some kind from a medical professional. If you suspect you have a sleep disorder, seek the advice from a medical professional. If they believe that your symptoms warrant further investigation, several steps may be taken to determine this, two commonly used ones are noted below:

The Epworth Sleepiness Scale

Recognising the need to be able to clinically evaluate a person's symptoms at the Sleep Disorder clinic in Epworth Hospital, Melbourne, Murray W. Johns, a doctor specializing in sleep disorders, created the Epworth Sleepiness Scale: a short questionnaire of eight questions about a person's likelihood of dosing in certain situations [6]. Since the publication of the Epworth Sleepiness Scale, it has become a common, internationally used tool to determine if a person may be showing signs of a sleep disorder, with the only change being made to the original scale being the range used to determine whether a person exhibits normal, borderline or abnormal results [7]. As an initial stage in evaluating whether a person is showing the signs of excessive daytime sleepiness, the Epworth Sleepiness Scale can be used quickly and effectively. 

Sleep Study: Monitoring For Symptoms

If a person is showing signs of excessive daytime sleepiness, or other signs of a sleep disorder, then an overnight polysomnography study may be used to monitor a patient while they sleep [4]. It is a common diagnostic tool used to monitor multiple components what may be linked to poor sleep, such as limb movement, airflow, oxygen saturation as well as the quality of your sleep cycles. 

A medical professional is required to carry out the test, as well as interpret the results, due to the complexity involved as different electrodes are utilised to monitor numerous variables. 

Sleep Hygiene

The routine around a persons sleep is essential to a healthy nights sleep and shouldn't be ignored, even if a sleep disorder is diagnosed.

The Importance of a Healthy Routine

Sleep hygiene is the term associated to a set of behavioural and environmental recommendations intended to promote healthy sleep and was initially publicised in 1977 for use in the treatment of mild to moderate insomnia [8]. Since then, it has undergone decades of testing and scrutiny, with the current consensus being that sleep hygiene is important, although certain aspects of sleep hygiene have more of an impact on a persons sleep quality than others [9][10]. The basics of sleep hygiene are summarised below:

  1. Avoid caffeine

  2. Avoid nicotine

  3. Avoid alcohol

  4. Exercise regularly

  5. Manage stress

  6. Reduce bedroom noise

  7. Sleep at regular times

  8. Avoid daytime naps

While basic, these factors all help to contribute to a healthy sleep schedule and can modestly improve sleep quality and therefore shouldn't be overlooked. 

Ultimately if you feeling that you may suffer from excessive daytime sleepiness rather than fatigue, seek advice from a medical professional. The discovery of sleep disorders linked to CMT is relatively new and therefore, not all practitioners may be aware of this link, resulting in a misdiagnosis of fatigue as opposed to daytime sleepiness. Getting a good nights sleep is vital for many different reasons, such as helping the immune system [11] and reducing depression and anxiety [12]


[1] Fan, Mengyu & Qi, Lu. (2020). Sleep, Genetics, and Human Health. 10.1016/B978-0-12-816658-1.00006-5. 

[2] Ramdharry GM, Thornhill A, Mein G, Reilly MM, Marsden JF. Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2012;22 Suppl 3:S208-S213. doi:10.1016/j.nmd.2012.10.016

[3] Kalkman JS, Schillings ML, van der Werf SP, et al. Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry. 2005;76(10):1406-1409. doi:10.1136/jnnp.2004.050005

[4] Dematteis M, Pépin JL, Jeanmart M, Deschaux C, Labarre-Vila A, Lévy P. Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. Lancet. 2001;357(9252):267-272. doi:10.1016/S0140-6736(00)03614-X

[5] Aboussouan LS, Lewis RA, Shy ME. Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease. Lung. 2007;185(1):1-7. doi:10.1007/s00408-006-0053-9

[6] Johns MW. A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep. 1991;14(6):540-545. doi:10.1093/sleep/14.6.540

[7] Engleman HM, Douglas NJ. Sleep. 4: Sleepiness, cognitive function, and quality of life in obstructive sleep apnoea/hypopnoea syndrome. Thorax. 2004;59(7):618-622. doi:10.1136/thx.2003.015867

[8] Hauri P. Sleep hygiene. In: Hauri P, editor. Current concepts: the sleep disorders. Kalamazoo, MI: The Upjohn Company; 1977. p. 21e35.

[9] Mastin DF, Bryson J, Corwyn R. Assessment of sleep hygiene using the Sleep Hygiene Index. J Behav Med. 2006;29(3):223-227. doi:10.1007/s10865-006-9047-6

[10] Brown FC, Buboltz WC Jr, Soper B. Relationship of sleep hygiene awareness, sleep hygiene practices, and sleep quality in university students. Behav Med. 2002;28(1):33-38. doi:10.1080/08964280209596396

[11] Bryant PA, Trinder J, Curtis N. Sick and tired: Does sleep have a vital role in the immune system?. Nat Rev Immunol. 2004;4(6):457-467. doi:10.1038/nri1369

[12] Alvaro PK, Roberts RM, Harris JK. A Systematic Review Assessing Bidirectionality between Sleep Disturbances, Anxiety, and Depression. Sleep. 2013;36(7):1059-1068. Published 2013 Jul 1. doi:10.5665/sleep.2810

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