Medical emergency card for Steinert's disease: an unmet need

Abstract

Myotonic dystrophy type 1 (DM1) or Steinert's disease (ORPHA 273; OMIM #160900) is a rare disorder of genetic origin with muscular manifestations (muscle weakness and myotonia), early-onset cataracts (before 50 years of age) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immune system). Its clinical expressivity is highly variable and ranges from lethal forms in infancy to mild late-onset disease. Its low frequency prevents emergency medical professionals from becoming familiar with the essential precautions for its treatment. In order to alleviate this lack of information, those affected by DM1 have, in the countries of our environment, a medical emergency card (Tarjeta de Emergencias Medicas, TEM) that the patient should always carry with him/her and give to the physician before receiving emergency care. To define the TEM. To describe the TEM for DM1 already implemented. To list the advantages for patients and professionals of their use. Some of the TEM for DM1 currently in use in France and the United Kingdom are described. The arguments justifying their implantation in our setting are presented in detail. The TEM for DM1 managed by a physician can improve the emergency medical care of patients affected by Steinert's disease.