Psychological distress in patients with Charcot-Marie-Tooth disease

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.

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.

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).

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.