[Type I Charcot-Marie-Tooth syndrome. Disability and management]

Abstract

Molecular genetic research on Charcot-Marie-Tooth 1 syndrome (CMT 1) progresses rapidly, still obviously no cure is available for affected individuals. Our aim was to investigate current management in clinical CMT 1 50 patients with Charcot-Marie-Tooth syndrome type I (CMT 1) were explored for applied means of therapy and use of health care institutions. We documented the number of annual appointments at a neurologist, orthopaedist and psychologist. Previous admissions to hospitals and rehabilitation centres and surgical procedures were assessed. Practice of physiotherapy, occupational and physical therapy were investigated, also administered orthopaedic devices, mechanical devices and technical modification of car and home. Drugs prescribed were listed and the number of patients seeking advice at para-medical institutions was determined. Degree of medical support did not correlate with severity of disease. We observed that persons with marked disability did not uniformly receive adequate therapy. This was partly due to the responsible physicians, and partly due to lacking cooperation of the patients. Support of affected individuals and counselling to our opinion are to be improved. This would require further evaluation of therapies, establishment and distribution of guidelines, as well as motivation of patients, which might be facilitated by the offer of molecular genetic diagnostics.