Blog Archives
DMD: a summary of the factors correlated with cardiac damage
A review of the literature on predictors of cardiac involvement in Duchenne muscular dystrophy included 33 articles concerning 9,232 patients. Most (76%) were retrospective studies, 15% randomised studies, 6% prospective cohort studies and 3% case series. Cardiac treatments were significantly associated with preserved systolic ejection fraction, with a moderate to high level of evidence. Mutations … [Read more]
NDUFA11, a possible autoantigen in inclusion body myositis
An international study involving the Nice University Hospital and the Pitié-Salpêtrière Hospital : evaluated IgG reactivity to a panel of 357 proteins in a total of 874 people, including 31 with sporadic inclusion myositis; IgG anti-NDUFA11 (for NADH dehydrogenase 1 α subcomplex 11) was found to be more frequent in inclusion myositis (9.7% of cases) … [Read more]
New European recommendations for Pompe disease
The European Reference Network for Metabolic Diseases (MetabERN) has drawn up new recommendations for Pompe disease, the most common muscular glycogenosis: experts in the field and members of MetabERN have analysed the recent literature on the subject, focusing on the results of various therapeutic trials, a rigorous methodology was used to create a standardised database … [Read more]
Towards a better understanding of myopathy linked to the DNAJB4 gene
An international consortium of researchers and clinicians report the clinical and biological data of patients diagnosed with DNAJB4-related myopathy: 5 families of distinct and unrelated ethnic origins were included in the study following the discovery of 5 pathogenic variants of the DNAJB4 gene, including three with loss of function, the clinical picture combined spinal rigidity … [Read more]
For once, a heterozygous variant of the TTN gene can lead to a dominant myopathy
The 14 members (eight affected and six healthy) of a family with autosomal dominant myopathy were examined in detail: the patients presented the same picture of skeletal muscle damage associated with cardiac damage; genetic analysis revealed a nonsense variant c.70051C>Tp.(Arg23351) in the TTN gene; RNA sequencing showed reduced expression of the mutated allele and Western … [Read more]
Danon disease: a single-centre Chinese retrospective study of 29 paediatric cases
Between July 2014 and December 2023, 21 boys and 8 girls undergoing follow-up at a paediatric cardiology centre in Shanghai were genetically diagnosed with Danon disease, at around 7 years of age for the boys and slightly later (9.4 years on average) for the girls. Nearly half had a family history of this very rare … [Read more]
Becker myopathy: a more specific mouse model
A new rat model of Becker muscular dystrophy, with a deletion of exons 45-47 of the Dmd gene, has been developed by a French team including researchers from the Institute’s Center for Research in Myology : This model rat shows moderate impairment of locomotion and diaphragm, associated with progressive cardiomyopathy. Histology shows disorganisation of the … [Read more]
Searching for markers of myasthenia gravis in French National Health Insurance data
Over the period 2013-2020, 14,459 people in France received reimbursements for care related to autoimmune myasthenia gravis, including 6,354 for the first time. Of these, : 34.6% were hospitalised at least once in intensive care, 2,817 patients received IVIG and 432 received plasma exchange, these events, which indicate poor control of the disease, mainly occurred … [Read more]
Disease progression in BMD depends on the type of deletion
A retrospective natural history study of 943 patients with Becker myopathy (BMD) followed in 17 Italian neuromuscular centres provides information on the correlation between genetic abnormality, symptoms and disease course. Diagnosis was made at a median age of 7.5 years (4.0-14.0); the median age at last assessment was 26 years (16.6 – 41.9). The first … [Read more]
Recommendations for cardiac monitoring of adults with canalopathy on mexiletine
Cardiac monitoring is recommended in adults with muscular canalopathy treated for myotonia with mexiletine (Namuscla®), due to a possible pro-arrhythmic effect of the product. To help prescribers, a number of experts – cardiologists and neurologists from various French reference centres, and an Italian pharmacologist – have issued recommendations concerning cardiac monitoring of adults being treated, … [Read more]
