Duchenne muscular dystrophy
RSS feedA multi-factorial approach to urinary disorders in DMD
Turkish physiotherapists report on their experience in assessing symptoms, disorders and signs of the lower urinary tract in children with Duchenne muscular dystrophy (DMD): 45 children and adolescents aged 5-18 years with DMD were included in the study, Assessments included a functional score assessing bladder emptying and the risk of urinary incontinence, a Vignos score, … [Read more]
Comparative data on vamorolone and prednisone for adrenal suppression
Long-term corticosteroid therapy remains the reference treatment for Duchenne muscular dystrophy (DMD), but is associated with numerous side-effects, including resting of the hypothalamo adrenal axis. An international group of researchers has carried out a post-hoc analysis of the data obtained in a previous phase IIb trial designed to demonstrate the superiority of vamorolone (a new-generation … [Read more]
DMD: a gene therapy strategy more effective than microdystrophin in mdx mice
Within a month of each other, a German-American and a Chinese-American team published the proof of concept of a gene therapy strategy leading to the expression of a full-length dystrophin in the skeletal and cardiac muscle of mdx mice. This method is based on intelin-mediated protein trans-splicing. It uses triple administration via a highly muscle-tropic … [Read more]
A 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]
