P.13 What is the future for female patients with childhood onset symptomatic Duchenne muscular dystrophy?

Abstract

For female patients with childhood onset Duchenne muscular dystrophy (DMD) long-term disease course, specific female symptoms, the consequences for social participation, and with all this the exact need for care, are largely unknown. We aim to study a broad scope of symptoms, functional status, care management, and social participation in a relatively large cohort in order to support guideline development. A cohort of 12 patients was followed for a median period of 17.2 years. One patient deceased during follow-up due to cardiac failure. Fatigue, myalgia, lower back pain and arthralgia occurred in more than half of the patients. Functional status varied, and cardiac abnormalities were infrequent (3 out of 11 patients). Respiratory function, however, was decreased in 9 out of 11 patients, of whom only one had symptoms of hypoventilation. All patients experienced restrictions in education, sports, performing (paid) work and/ or household chores. These results show the wide phenotypic spectrum in female patients with childhood onset DMD, and the medical and social consequences. Respiratory and cardiac screening, but also rehabilitation care is recommended to improve health status and to support daily activities and participation for female DMD patients.