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Classical form of Steinert’s disease: 3 possible different cognitive profiles

Cognitive impairment may occur in the adult-onset form of Steinert disease. This can vary greatly from one person to another. A study from Lille characterised cognitive impairment in 124 adult patients aged between 19 and 73: Their work revealed three types of cognitive profile, which seemed to be influenced by age and the time elapsed … [Read more]

Efficacy of long-term quasi-total parenteral nutrition in a young man with Emery-Dreifuss muscular dystrophy

The weight of a 26-year-old man with Emery-Dreifuss muscular dystrophy fell in one year from over 23.8 kg to 22.5 kg, in connection with a worsening of his dysphagia to solid foods over the last six months. He was consuming 500 to 600 kcal/day and 150 to 200ml of water. He was put on total … [Read more]

CHMP opinion still negative on the renewal of Translarna’s marketing authorisation in DMD

The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had decided twice against renewing the marketing authorisation for Translarna (ataluren) for Duchenne muscular dystrophy (DMD). In May 2024, the European Commission annulled the procedure on the grounds of procedural irregularities. It asked the EMA to re-analyse the available evidence, … [Read more]

A probable Finnish founder effect in a form of congenital myasthenic syndrome

Finnish researchers report the clinical and biological data of 15 patients from 14 unrelated, non-consanguineous families diagnosed with congenital myasthenic syndrome (CMS) linked to the DOK7 gene: all were homozygous carriers of a mutation in the DOK7 gene (c.1508dupC), this was accompanied by considerable variability in phenotypic expression, the authors distinguished between two groups, one … [Read more]

Respiratory function in SMA patients treated with gene therapy

A growing number of infants diagnosed with spinal muscular atrophy (type I or type II) are benefiting from adeno-associated virus (AAV)-mediated gene therapy. Clinicians at the Necker-Enfants Malades hospital report on their respiratory progress: 15 infants (including one case of SMA type II) with a median age of 8.6 months (3.8 to 12.6 months) were … [Read more]

A meta-analysis of the efficacy and safety of the onasemnogen abeparvovec in SMA

Brazilian researchers have compiled data from the literature on one of three innovative drugs designed to treat children with type 1 spinal muscular atrophy (SMA1). The onasemnogene abeparvovec (Zolgensma®) is the first gene therapy product to have marketing authorisation for this indication: the authors selected four publications corresponding to three clinical trials (START, STR1VE-US and … [Read more]

 European recommendations for the treatment of epilepsy in mitochondrial diseases

A group of 24 experts (two of whom practice in France), members of five European reference networks, used the Delphi method to draw up recommendations for the treatment of epilepsy in primary mitochondrial diseases: consensus was rapidly reached on the safe use of 14 of the 25 antiepileptic drugs studied for children and adults; for … [Read more]

Improved pneumococcal vaccination coverage in inflammatory diseases in the United States

Faced with very low vaccination coverage rates, particularly against pneumococcus, in patients with inflammatory pathologies, American clinicians set up an action plan: the target population was patients with lupus or connective tissue diseases (including inflammatory myopathies such as dermatomyositis), whether or not they were being treated with immunosuppressive drugs, two types of vaccine (PCV13 and … [Read more]

Cardiac myosin inhibitor improves skeletal muscle contractility in Laing myopathy

Mavacamten is a small molecule inhibitor of myosin ATPase activity, used in hypertrophic cardiomyopathies, which targets myocardial hypercontractility by reducing the number of myosin heads in a disordered relaxed configuration in favor of a predominantly super-relaxed state as in normal muscle. Mouse models carrying the MYH7 mutation most common in distal Laing myopathy display muscle … [Read more]

Nusinersen does not prevent hip instability in SMA type II

Researchers in Hong Kong investigated the extent to which treatment with intrathecal nusinersen influenced the risk of bilateral hip dislocation, a complication very frequently observed in spinal muscular atrophy type II (SMA II) linked to the SMN1 gene : 10 children with SMA type II were included in the study, which ran for three and … [Read more]