Dystrophinopathies in women
RSS feedCognitive and cerebral alterations found in women with DMD gene anomalies
While women with DMD gene defects are most often asymptomatic, a Brazilian study shows that they sometimes present impairment in several cognitive domains, as well as structural lesions in certain brain regions. The study included 33 women with DMD gene defects and 33 healthy women matched for age, sex and education. All underwent 3T brain … [Read more]
Improving assessment of the risk of DMD and BMD recurrence in the case of a de novo mutation
One third of the variants involved in Duchenne and Becker muscular dystrophies (BDMD) are de novo mutations. Knowing that these diseases are predisposed to germline mosaicism, the team from the Department of Genomic Medicine for System and Organ Diseases at Hôpital Cochin (Paris) found, in their unpublished retrospective series of 332 BDMD families, a germline … [Read more]
A new combination of biomarkers to detect DMD female carriers
Chinese researchers have studied ways of improving screening for women with Duchenne muscular dystrophy (DMD): apart from DMD gene genotyping, creatine phosphokinase (CPK) blood testing has until now been the only simple and cheap biomarker, because of the large number of false negatives with this method, the value of other biomarkers has been explored, in … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
An ENMC workshop on dystrophinopathies in women
In May 2022, the European Neuromuscular Center (ENMC) brought together about 20 experts and patient representatives from all over the world to review the pathophysiology, prevalence and management of women with partial or complete dystrophin deficiency. Their conclusions and recommendations include: the need to abandon the term “transmitters” or “carriers” of Duchenne muscular dystrophy in … [Read more]
Dystrophinopathies: a UK consensus on the cardiological management of boys and women with DMD mutations
In order to reduce regional disparities in cardiological care for boys and female transmitters with dystrophinopathy, a working group (adult and child cardiologists, neuromuscular physicians and nurses, patient representatives), has published recommendations for follow-up and preventive care to be implemented at diagnosis and curative care once heart failure is detected. This consensus applies to children … [Read more]
