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Research paper
Sleep disorders in Charcot-Marie-Tooth disease type 1
  1. Matthias Boentert,
  2. Katharina Knop,
  3. Christine Schuhmacher,
  4. Burkhard Gess,
  5. Angelika Okegwo,
  6. Peter Young
  1. Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Münster, Germany
  1. Correspondence to Dr Matthias Boentert, Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Albert-Schweitzer-Campus 1, Münster 48149, Germany; matthias.boentert{at}


Introduction Obstructive sleep apnoea (OSA) and restless legs syndrome (RLS) have been reported in Charcot-Marie-Tooth disease (CMT) type 1A and axonal subtypes of CMT, respectively. The aim of this case–control study was to investigate both prevalence and severity of OSA, RLS and periodic limb movements in sleep (PLMS) in adult patients with genetically proven CMT1.

Patients and methods 61 patients with CMT1 and 61 insomnic control subjects were matched for age, sex, and Body Mass Index. Neurological disability in patients with CMT was assessed using the Functional Disability Scale (FDS). RLS diagnosis was based on a screening questionnaire and structured clinical interviews. All participants underwent overnight polysomnography.

Results OSA was present in 37.7% of patients with CMT1 and 4.9% of controls (p<0.0001). The mean Apnoea Hypoponea Index (AHI) was significantly higher in patients with CMT1 than in control individuals (9.1/h vs 1.2/h). RLS was present in 40.9% of patients with CMT1 and in 16.4% of controls (p<0.001). In the CMT1 group, OSA was significantly more common in men and RLS in women. The AHI correlated with both age and the FDS score, the latter being a significant independent predictor of OSA. PLMS were found in 41.0% of patients with CMT1, but were not correlated with measures of sleep quality.

Conclusions In addition to known risk factors, CMT may predispose to OSA. RLS is highly prevalent not only in axonal subtypes of CMT but also in primarily demyelinating subforms of CMT. PLMS are common in CMT1, but do not significantly impair sleep quality.


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