Blog Archives
Cognitive and cerebral alterations found in women with DMD gene anomalies
While women with DMD gene defects are most often asymptomatic, a Brazilian study shows that they sometimes present impairment in several cognitive domains, as well as structural lesions in certain brain regions. The study included 33 women with DMD gene defects and 33 healthy women matched for age, sex and education. All underwent 3T brain … [Read more]
Late dysferlinopathy presenting as generalized permanent myalgia
The team at the Institute of Myology (Paris) reports the observation of a 52-year-old woman suffering for four years from permanent generalized muscle pain, aggravated by physical activity and associated with joint pain. She also complained of fatigue in the upper limbs, with difficulty holding her arms up. Muscle biopsy revealed a marked decrease in … [Read more]
GNE myopathy and 6′-sialyllactose: mixed results
A South Korean team conducted a trial of 6′-sialyllactose (6SL) in GNE myopathy for almost two years (96 weeks) in 20 participants aged between 24 and 58 with an average disease duration of 8.6±5.1 years: seven participants received 3g/d of 6SL (low dose), seven others 6g/d (high dose) and six others placebo for three months … [Read more]
DREAMS webinar, 28 Feb.: A. Mejat (France), E. Malfatti (France), G. Perret (France)
Clinical Trials in Focus: Innovations and Patient Perspectives in Rare Diseases Friday 28 February 2025 – 12:00 PM – 1:30 PM (CET) Alexandre Mejat (AFM-Téléthon) • The Need for Innovation in Clinical Trial Methodologies for Muscular Disorders Edoardo Malfatti (AP-HP) • Overview of Outcome Mesures in Neuromuscular Disorder Clinical Trials Gérald Perret (Généthon) • Lessons … [Read more]
The main causes of death in Steinert disease
Researchers have examined the causes of death in 1,021 patients with Steinert’s disease (or myotonic dystrophy type 1) in the United Kingdom. – The main causes of death were cardiac (rhythm and conduction disorders) and respiratory (respiratory failure, inhalation pneumonitis, etc.), which are known complications of the disease. – Although deaths from cancer appear to … [Read more]
SMA therapies do not prevent the development of scoliosis
A German team conducted a retrospective cross-sectional study of 75 patients to assess the course of neuromuscular scoliosis associated with SMA. a total of 75 patients were included in the analysis; 36.5% had type I SMA, 40.5% had type II SMA and 23% had type III SMA. all were treated with Spinraza®, Zolgensma® and Evrysdi® … [Read more]
The difficulty of interpreting SMCHD1 gene variants in FSHD
Clinicians and geneticists from the French network dedicated to facioscapulohumeral muscular dystrophy (FSHD), which includes clinicians from the Institut de Myologie, have provided an update on a rarer form of FSHD type 2 linked to the SMCHD1 gene: the sequencing data and methylation studies of 54 FSHD1-negative patients were collected and analysed, all patients had … [Read more]
SMA clinical trial results: what’s new?
As several clinical trials continue in SMN1-related proximal spinal muscular atrophy, new results have been shared. DEVOTE trial, testing higher doses (50/28 mg) of Spinraza than currently available (12 mg): clinical benefits of higher doses in patients already treated or treatment naïve. Motor neuron degeneration, which is reflected in the reduction of neurofilaments in plasma, … [Read more]
A more effective molecular biology tool for detecting SMA
The American team at the Broad Institute in Boston (USA) has developed the SMA Finder, a new algorithm designed to identify SMA more easily from data generated by high-throughput sequencing (NGS): raw sequencing data from gene panels, exomes and whole genomes were collected by the Broad Institute in collaboration with the Estonian Department of Genetics … [Read more]
Retrospective study of the Institute of Myology’s muscle biopsies in infants
A retrospective study of 535 muscle biopsies taken over 52 years from infants aged between 0 and 6 months and collected at the Institut de Myologie showed that : 82% of them showed abnormalities specific to a neuromuscular disease; between 1970 and 1999, 11.6% of biopsies (out of 248) were normal, compared with 4% (out … [Read more]
