Our science & medical news
RSS feedThe MG-ADL scale is not the most appropriate tool for assessing respiratory impairment in myasthenia gravis
Danish and French clinicians investigated the diagnostic and predictive value of the Myasthenia Gravis Activities of Daily Living (MG-ADL) scale for respiratory function in patients with myasthenia gravis: 70 adults with a confirmed diagnosis of myasthenia gravis took part in the study, which involved completing three functional scales (the MGC, the QMG, and the MG-ADL) … [Read more]
A new case of adult myopathy associated with the ACTA1 gene
French, Romanian and Russian researchers, including experts from the Institute of Myology, report the clinical, histological and genetic findings of an adult diagnosed with muscular actinopathy: the 65-year-old patient lives in Russia and presented with a slowly progressive, fairly non-specific muscle weakness, although with a scapuloperoneal distribution; she had no associated cardiac or respiratory involvement; … [Read more]
Sexual dysfunction remains understudied in neuromuscular disorders
A team from the Institute of Myology conducted a literature review to assess the current state of knowledge regarding sexual dysfunction in neuromuscular diseases. The analysis covered 27 studies conducted between 1983 and 2024, involving 2,428 patients. Sexual dysfunction is common and varied in neuromuscular diseases, with multifactorial mechanisms (endocrine, neuromuscular, psychological or related to … [Read more]
Study on a very rare form of core myopathy
A study conducted in the Île-de-France region, involving researchers and clinicians from the Institute, describes the case of a patient who was diagnosed with congenital myopathy at the age of 20: the patient had suffered from diffuse muscle weakness since childhood, as well as central nervous system involvement, including learning difficulties and bilateral optic atrophy; … [Read more]
Researchers from the institute’s NMR laboratory attending the ISMRM 2026 annual conference
. Four experts from the NMR Imaging and Spectroscopy Laboratory will present the team’s work at the annual ISMRM (International Society for Magnetic Resonance in Medicine) conference, which will take place from 9 to 14 May 2026 in Cape Town, South Africa. They were able to present the results of some of their research on … [Read more]
The transition from childhood to adulthood in neuromuscular disorders: a European perspective
The European reference network EURO-NMD conducted a survey to assess the needs and processes involved in the transition of patients with a neuromuscular disorder from childhood to adulthood: 67 healthcare professionals from twenty different European countries took part in this questionnaire-based study, the topics covered included the arrangements for this transition, the availability of training … [Read more]
A new prognostic factor in muscular dystrophies with cardiac involvement
Clinicians in the Paris region, some of whom practice at the Institute, report on a study of a new ratio of echocardiographic parameters in patients with various forms of muscular dystrophy (primarily Becker or Duchenne muscular dystrophy and sarcoglycanopathies): the assessment of coupling between the pulmonary artery and the right ventricle provides a good indication … [Read more]
Cases of spontaneous remission of autoimmune necrotizing myopathy
An international consortium of clinicians, including researchers from the Institute*, examined specific cases of statin-associated autoimmune necrotizing myopathy (IMNM), particularly those involving anti-HMGCR autoantibodies: four patients experienced spontaneous remission after discontinuing statins, without the need for heavy immunosuppressive therapy, this remission lasted 6 to 12 months, however, two of the patients relapsed upon reintroduction of … [Read more]
Chemical inhibition of SUMOylation activates the FSHD locus
Researchers in Marseille, in collaboration with a researcher from the Institute of Myology*, have investigated the epigenetic regulation of DUX4 expression—the protein responsible for muscle toxicity in facioscapulohumeral muscular dystrophy (FSHD): based on previous observations in embryonic stem cells from mice with FSHD regarding a post-transcriptional regulatory mechanism involving a family of proteins called SUMO … [Read more]
Enhancing diagnosis delivery in NMDs: insights from patient experiences
The disclosure of a diagnosis is a pivotal event in a patient’s care pathway and has been the subject of extensive research across various medical fields, particularly in oncology and psychiatry. However, the specific characteristics of the diagnostic disclosure in neuromuscular diseases — which are distinguished by the fact that they are rare, chronic, progressive … [Read more]
