Blog Archives
Study of the cardiac fibroblast phenotype derived from IPS stem cells from patients with DMD
A European consortium of researchers has studied the biological and molecular characteristics of cardiac fibroblasts generated from induced pluripotent stem cells (IPSCs) from Duchenne muscular dystrophy (DMD) patients and control subjects: these supporting tissue cells do not express full-length dystrophin like muscle fibres, these fibroblasts show profound changes in their biochemical profiles, with activation of … [Read more]
The distribution of genetic anomalies in CMT in China reveals differences in the paediatric population
Chinese researchers have studied the genotype of 181 children with all-types Charcot-Marie-Tooth disease: several techniques were used: search for duplication/deletion of the PMP22 gene, CMT panel, whole exome, etc. 68% of patients had genetic confirmation of their disease, demonstrating a good diagnostic yield, CMT1A (duplication of the PMP22 gene) remains the most frequent aetiology, followed … [Read more]
How 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]
MTM1 gene therapy effective in BIN1-related centronuclear myopathy
In July 2023, a team from the Institut de Génétique et de Biologie Moléculaire et Cellulaire in Strasbourg published the validation of a new therapeutic strategy involving the overexpression of myotubularin 1 (MTM1) in a BIN1-linked centronuclear mouse model. Systemic administration of AAV-MTM1 does not alter the phenotype of DNM2-related centronuclear myopathy mouse models. However, … [Read more]
Results of a survey on pregnancy in CMT disease
British team conducted a survey of 92 women with Charcot-Marie-Tooth (CMT) disease to assess their experiences of pregnancy and childbirth (171 in total): the participants completed questionnaires on the development of symptoms during pregnancy and potential obstetric complications encountered. The survey was carried out in a single London hospital, on pregnancies that took place between … [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]
Advances in facioscapulohumeral muscular dystrophy – June 2023
Facioscapulohumeral muscular dystrophy (FSHD or FSH) is a rare genetic disease. The first symptoms (wasting and weakness of muscles in the face and upper limbs) usually appear in adolescence or adulthood. The muscle involvement in FSHD is often asymmetric and varies greatly from person to person. It is a slowly progressive disease in most cases … [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]
Identification of a new form of congenital myasthenic syndrome – Interview with Marion Masingue and Stéphanie Bauché
The case of a patient presenting an atypical form of congenital myasthenic syndrome with the identification of a new mutation in the LRP4 gene has just been published in the journal Science Reports*. Result of a close collaboration between French scientists including clinicians from the Service of Neuro-Myology and researchers from the Myology Centre for … [Read more]
The presence of fever increases the risk of serious respiratory complications in inflammatory myopathies
Chinese researchers analyzed a series of 79 patients with idiopathic inflammatory myopathy, distinguishing between those with prolonged fever at the initial stage of their disease and those who remained apyretic: in the febrile group, there was a higher frequency of cutaneous signs (mechanic’s hand) and respiratory complications (acute interstitial lung disease), all occurring in patients … [Read more]
