Blog Archives
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]
Heterozygote screening techniques are almost equally effective in SMA
Chinese researchers tested five different laboratory techniques designed to determine the status of the SMN1 and SMN2 genes in 516 reference samples. These techniques included: MLPA, quantitative PCR (qPCR), digital microdroplet PCR (ddPCR), high-resolution analysis (HRM) and capillary electrophoresis PCR (CE PCR); MLPA remains the reference method, but requires considerable laboratory time and resources, the … [Read more]
Improved diaphragmatic impairment in nusinersen-treated SMA
German researchers studied diaphragmatic function in 28 adults with SMA, before and after treatment with nusinersen (Spinraza®) : 10 with SMA type II and 14 with type III, diaphragm thickening and stroke were assessed by ultrasound and correlated with parameters from other respiratory function tests, both parameters improved after treatment. The authors of this work … [Read more]
The Neuropathies Rehabilitation Summer School
The Neuropathies Rehabilitation Summer School, organised under the auspices of the ERN EURO-NMD, took place in Rome from 18 to 21 September 2023. Its main aim was to disseminate knowledge about current and future rehabilitation methods for rare and complex neuropathies. Clinicians and researchers from the Institute have given talks or lectures: Monday 18 September … [Read more]
