Duchenne muscular dystrophy
RSS feedHow scoliosis and scoliosis surgery affect lifespan in DMD
A retrospective study carried out between January 2000 and August 2022 by Scottish surgeons on 113 patients with Duchenne muscular dystrophy (DMD) showed that 43 of them (38%) had posterior spinal fusion for scoliosis (33) or kyphoscoliosis (10). The age at surgery ranged from 10 years 9 months to 18 years 3 months, with a … [Read more]
DMD and newborn screening: results of a two-year American pilot programme
An American team conducted a two-year pilot study in several New York hospitals to assess the feasibility and benefits of newborn screening for Duchenne muscular dystrophy (DMD): 36,781 newborns were included in this study after parental consent. Initially, their blood samples were tested for creatine kinase (CK). 24 boys and 17 girls showed elevated levels … [Read more]
DMD: the EMA’s CHMP has ruled against the marketing authorisation and the renewal of the conditional marketing authorisation for translarna
Translarna (ataluren), developed by the laboratory PTC Therapeutics, has until now benefited from a conditional marketing authorisation for Duchenne muscular dystrophy, granted by the EMA for patients with a “nonsense” mutation of the DMD gene, aged 2 years and over, who are able to walk. On 15 September 2023, the CHMP recommended that this marketing … [Read more]
DMD: positive results from Viltolarsen confirmed over four years
The first publication of the results of the phase II clinical trial of Viltolarsen in 16 boys with DMD aged between 4 and 9 years in May 2020 showed that it induced a significant increase in the overall level of dystrophin in the muscle, accompanied by functional improvement after six months of treatment. In this … [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]
How American families affected by Duchenne or Becker muscular dystrophy feel about newborn screening
In order to better understand the preferences of families regarding newborn screening, a questionnaire was completed by 66 families affected by Duchenne or Becker muscular dystrophy. The results showed that : the average age at diagnosis was four years, with the onset of symptoms at the age of 2.1 years, the first worrying manifestations were … [Read more]
