Psychological Distress in Patients With Charcot-Marie-Tooth Disease

Eur J Phys Rehabil Med. 2009 Sep;45(3):385-9.


Aim: Charcot-Marie-Tooth disease (CMT) is a genetic neuropathy that causes variable degrees of gait and handgrip impairment, and reduces quality of life. The large majority of CMT patients are moderately affected and lead almost a normal life despite facing numerous difficulties and physical and psychological suffering. This study is aimed at investigating the possible presence of psychological distress in this population.

Methods: Fifty-three patients (F=30, M=23; age: 16-64 years; disease duration: 1-53 years), with variable gait and handgrip impairments but still able to ambulate independently, referred to a specialized rehabilitation service, and 53 sex and age matched controls were administered with the Kellner's Symptom Questionnaire Italian validated version.

Results: The mean scores of patients, both as a whole and as divided in groups according to sex, age and lower limb impairment severity, did not differ significantly from those of controls (P>0.05).

Conclusion: Patients with CMT are able to cope with the problems caused by their disease without developing more psychological distress than unaffected subjects, probably as the result of a comprehensive adaptation, favoured by the long disease duration, relative mildness of symptoms, good cognitive functioning and availability of rehabilitative resources.

MeSH terms

  • Adaptation, Psychological
  • Adolescent
  • Adult
  • Anxiety / diagnosis
  • Case-Control Studies
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / psychology*
  • Depression / diagnosis
  • Female
  • Hostility
  • Humans
  • Male
  • Middle Aged
  • Psychophysiologic Disorders / diagnosis
  • Severity of Illness Index
  • Sickness Impact Profile
  • Stress, Psychological / complications
  • Stress, Psychological / etiology*
  • Young Adult