Duchenne muscular dystrophy
RSS feedA case of myositis following gene therapy for DMD
American clinicians involved in gene therapy designed to deliver a truncated version of the dystrophin gene (microdystrophin) by vein, using an adeno-associated virus, have reported a complication that was already known but rarely encountered: the patient was 9 years old and still able to walk at the time of gene therapy (GT), his genotype corresponded … [Read more]
Heart transplants and muscular dystrophies: reticence shattered
A review of the literature on the 275 heart transplants performed for muscular dystrophies up to July 2023 shows that : these operations involved 116 patients with Becker’s myopathy (BMD) and 102 with laminopathy, but also 17 patients with limb-girdle muscular dystrophy (LGMD), 12 with Steinert’s myotonic dystrophy (DM1), 11 with Duchenne muscular dystrophy (DMD), … [Read more]
What is the relevant level of motor function change in DMD?
Given the relative failure of a certain number of therapeutic trials, an international consortium of specialists in Duchenne muscular dystrophy (DMD), in collaboration with the AFM-Téléthon in particular, has examined the motor trajectories in this pathology: to this end, they gathered data and clinical assessments from more than 1,000 DMD patients, in the context of … [Read more]
Is taxomifene useful for preserving cardiac function in DMD?
The investigators of the TAMDMD trial, designed to study the possible beneficial effects of tamoxifen in Duchenne muscular dystrophy (DMD), have carried out a post-hoc analysis despite disappointing results concerning motor function: the trial involved 79 double-blind patients treated with oral tamoxifen, analysis of the echocardiographic data available for 14 of these patients (7 treated … [Read more]
Urinary problems, to be investigated regularly in NMDs
Two recent publications highlight the high frequency of lower urinary tract symptoms in various neuromuscular diseases and their major impact on daily life. The first reports the results of a Turkish study of 45 boys aged between 5 and 18 suffering from Duchenne muscular dystrophy: urinary problems were present in 86.6% of them (strategies for … [Read more]
Towards a deeper understanding of the characteristics of the oculomotor muscles
Differences in embryological origin, regenerative potential and susceptibility to muscular diseases exist between the skeletal muscles of the head and those of the trunk and limbs. In particular, the oculomotor muscles are not affected (or are only slightly affected) in Duchenne muscular dystrophy. They are also distinctive for the key role played by the Pitx2 … [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]
Primary administration of biphosphonates is less deleterious than expected, but remains to be monitored, particularly in DMD
British clinicians have studied the side effects of the first venous administration of biphosphonates to combat osteoporosis: the records of 107 children who had received biphosphonates for inflammatory or genetic diseases (including Duchenne muscular dystrophy or DMD) were analysed retrospectively, the frequency of immediate complications and the length of hospitalisation were taken into account, in … [Read more]
Establishing functional trajectories is relevant to the design of therapeutic trials in DMD
Faced with the difficulties and sometimes disappointed expectations of certain therapeutic trials in Duchenne muscular dystrophy (DMD), an international consortium of researchers sought to refine the individual trajectories of the patients concerned: the study involved 51 DMD patients (aged between 7 and 18 years) and focused on the period from the loss of walking ability, … [Read more]
Glucocorticoid receptors are locally useful in DMD
American researchers sought to better understand the function and effects of long-term corticosteroid therapy in Duchenne muscular dystrophy (DMD): the gene encoding the glucocorticoid receptor was invalidated in one of the animal models of DMD (the mdx52 mouse), the double knock-out mice thus created were studied from a physiological (strength and function measurements) and histological … [Read more]
