Myology research highlights
RSS feedSpecific anthropometric curves for patients with SMA ?
Many children with spinal muscular atrophy (SMA) experience growth difficulties and weight problems as they progress. Italian researchers studied anthropometric data (height and weight) of 133 children with type I SMA and 82 with type II SMA, none receiving innovative therapies. They compared them to the standard curves established by the WHO. It appears … [Read more]
Interesting genotype-phenotype correlations in a French cohort of patients with neuromuscular disease
While the use of high-throughput sequencing (NGS) for diagnostic purposes is becoming commonplace, the limitations of its performance and the problems associated with the interpretation of certain ambiguous results remain. The Montpellier Neuromuscular Reference Centre reports work supported by AFM-Telethon on the difficulties encountered, in real life, in 156 patients affected by a hereditary … [Read more]
German recommendations for the diagnosis of hereditary or acquired neuropathies in pediatrics
The heterogeneity of the etiologies to be sought is so wide that the diagnosis of neuropathy in a child or adolescent is not always easy. This led a consortium of German-speaking neuropediatricians to establish good practice recommendations emphasizing the following points: the study of the history and the clinical examination remain essential, the hypothesis of … [Read more]
114DG11: a therapeutic hope for polyglucosans myopathies
Polyglucosans myopathies are a rare form of muscle glycogenosis characterized by the accumulation of poorly formed glycogen molecules. Researchers have developed a transgenic knock-in mouse for the GBE gene (glycogen-disrupting enzyme), responsible for the disease, and have tested several molecules on it for therapeutic purposes. The chemical compound 144DG11, which is said to interact with … [Read more]
CMD linked to LAMA2 deficiency: a pattern of specific muscle damage emerges on MRI
An Egyptian team performed a retrospective study of whole body MRI in 10 children with LAMA2 deficiency, an average of 10.3 years old (+/- 2.8 years). The topography of the muscular impairment of I deficiency on MRI appears to be significantly different from that found in other genetic muscle diseases having served as control (titinopathy, … [Read more]
A machine learning module for the diagnosis of FSH
The muscle involvement encountered in facio-scapulo-humeral myopathy (FSH) is sometimes confusing for the clinician because of its high selectivity and its often asymmetric nature. Italian researchers have developed an algorithm based on muscle MRI images from 187 patients with FSH and compared to those in a control group: the combination of a precociously affected trapezius … [Read more]
HAS opinion for Evrysdi® (risdiplam)
The opinion of the Transparency Committee concerning the reimbursement of Evrysdi® (or risdiplam) has just been published. In SMA type I, II and III, Evrysdi® obtains a favorable opinion for reimbursement in patients over 2 years of age, with a significant AB and ASMR: III (or moderate) for patients with non-ambulatory SMA type II and … [Read more]
ManNAc in GNE myopathy: new positive results
A first phase I clinical trial of ManNAc (a precursor of sialic acid) in 22 people with GNE myopathy followed for 8 months, showed the safety of use of the product and an increase of sialic acid in the blood ). A new phase II trial in 12 people with GNE myopathy followed for 6 … [Read more]
Reducing oxidative stress confines the development of symptoms in GDAP1-related CMT in mice
The GDAP1 gene is involved in several forms of CMT (including CMT 2K and CMT 4A). It encodes a mitochondrial protein. After screening in vitro 1018 molecules marketed in the United States, researchers have shown that florfenicol, an antibiotic that activates the respiratory chain, prevents the onset of symptoms (poor motor coordination and overweight) in … [Read more]
Next-generation pacemaker successfully implanted in an adult with DMD
Heart complications are part of the natural history of Duchenne muscular dystrophy (DMD), especially in adulthood, where they are responsible for a significant number of deaths. Besides cardiomyopathy related to fibrotic degeneration of the myocardial tissue, heart rhythm disorders and, especially, conduction disorders, represent clinical situations that are critical and not uncommon, and that can … [Read more]
