Dmd – clinical care

The majority of female carriers of mutations in DMD are clinically asymptomatic due to their X-linked inheritance; however, there are symptomatic carriers with great clinical heterogeneity. Among the symptoms described are musculoskeletal, cognitive, neuropsychiatric and cardiac involvement in the form of cardiomyopathy. We aimed to assess the current clinical management, in the different areas that may be affected, of female carriers of DMD, detected through the diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) in a male member of the family. A prospective descriptive study was carried out between 2019 and 2020 with the collaboration of the different centers included in the neuromuscular diseases working group of the Spanish Society of Neuropediatrics and carried out by a clinical interview of women with DMD. All families with at least one case of dystrophinopathy due to alterations in the DMD gene were included. During the study, a total of 58 women were evaluated. There are 43% non-carriers / 57% carriers included from the different collaborating follow-up centers. Among the female carriers, only 61% were assessed at the cardiological level, detecting alterations in 17%. 42% reported some type of musculoskeletal symptom. Symptoms of anxiety / depression were detected in up to 65% of the women interviewed. Although awareness has increased about the need to study the carrier status in mothers of patients with dystrophinopathy, there are still important deficits in the assessment, follow-up and counseling of both these patients and other female members of the family.