Blog Archives
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]
The Institute of Myology jointly discovers a new form of X-linked distal myopathy
An international collaboration that included researchers from the Institute of Myology has discovered a new form of distal myopathy, in 10 men: with adult onset (over 30 years of age to 40 years), the muscle condition is distal and progresses slowly (ability to walk is maintained). There is no heart involvement; it is caused by … [Read more]
MRI signal abnormalities in adults with Brown-Vialetto-Van Laere syndrome
Brown-Vialetto-Van Laere syndrome (BVVLS) is a very rare form of bulbspinal muscular atrophy which is treated with high doses of riboflavin. It results in motor neuronopathy, polyneuropathy, or even polyradiculopathy, associated with damage to the cranial nerves including the auditory nerve. Originally described in children, BVVLS is increasingly reported in adults. In an article published … [Read more]
