Myology research highlights
RSS feedFor 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]
Viltolarsen slows the decline in respiratory function in walking and non-walking patients
A drug targeting exon 53 skipping of the DMD gene authorised in the United States and Japan, viltolarsen was evaluated for 48 weeks (80mg/kg/week) in 10 walking and 10 non-walking DMD patients aged 8 and over, in the Galactica53 trial. The results compared with those of untreated DMD patients from an external cohort showed that … [Read more]
Real-life data for gene therapy in SMA: the German-speaking area experience
A transnational registry containing real-life data from patients with SMN1-related proximal spinal muscular atrophy (SMA) has been set up in Germany, Austria and German-speaking Switzerland: data from patients who had received onasemnogene abeparvovec gene therapy (Zolgensma®) were analysed, 343 patients with an average age of 14 months at the time of Zolgensma® administration were included … [Read more]
CAR-T cells to treat severe forms of Lambert-Eaton syndrome
German researchers report the case of a patient with Lambert-Eaton syndrome (or LEMS, a presynaptic disorder of the neuromuscular junction very often of paraneoplastic origin) who benefited from an innovative therapy: the patient had an idiopathic form of LEMS, autologous anti-CD19 CAR-T cells were administered, resulting in selective depletion of B lymphocytes, positive results were … [Read more]
New data on life expectancy in DM2
Of the 125 Dutch patients with myotonic dystrophy type 2 (DM2) recorded in the Dutch neuromuscular database, 26 died between 2000 and 2023 : the median age of these deaths was 70.9 years, compared with a life expectancy for the general population of 78.1 years; the main causes of death were cardiac (31%) and respiratory … [Read more]
An algorithm to assist diagnostic for seronegative autoimmune myasthenia gravis
At the 275th workshop of the European Neuromuscular Centre (ENMC), held in February 2024 in the Netherlands, experts and patient representatives met to review the diagnosis and management of seronegative autoimmune myasthenia gravis in the light of the latest advances. They concluded that : seronegative autoimmune myasthenia (undetectable autoantibodies) affects 10 to 15% of patients … [Read more]
