Myology research highlights
RSS feedThe combination of two functional scores is useful to establish orthosis indications in CMT
Italian researchers conducted a retrospective study to identify predictors of lower limb orthosis use in 149 patients with Charcot-Marie-Tooth disease (CMT): the majority of them needed an orthosis (in 87% of cases) whether it was insoles, orthopedic shoes or foot lifters, short or long; the functional CMTNS score (for CMT neuropathy score) and the … [Read more]
Soft chest orthosis improves upper limb function in case of shoulder blade detachment
Many neuromuscular diseases can lead to detachment of the shoulder blades (scapula alata) causing functional and aesthetic discomfort, or even severe pain. Researchers at the Swiss Federal Institute of Technology in Zurich (Switzerland) have developed an adjustable textile-based orthosis to reduce shoulder detachment. In a clinical trial conducted in eight participants with facioscapulohumeral muscular … [Read more]
MLIP: a new autosomal recessive gene responsible for rhabdomyolysis
Rhabdomyolysis is a heterogeneous group of pathologies at the genetic level. An international consortium reports: for the first time the involvement of the MLIP gene, which encodes a nuclear membrane protein interacting with muscle lamin type A / C, in seven patients from six separate families with rhabdomyolysis without a molecular signature; a clinical … [Read more]
Post hoc analysis and case report support dichlorphenamide in muscle channelopathies
Dichlorphenamide (Keveyis®) is prescribed to prevent attacks of periodic hypokalaemic and hyperkalaemic paralysis, two muscular channelopathies. A post-hoc analysis of the results of the randomized double-blind placebo-controlled HYP-HOP trial and its open-label extension: confirms the efficacy of dichlorphenamide at a dose of 100 mg / day in these two indications, with a lasting reduction … [Read more]
Maxillary and oral disorders should be investigated in inflammatory myopathies
Inflammatory myopathies are autoimmune neuromuscular diseases frequently associated with extra-muscular manifestations. Several varieties can be distinguished according to the clinical (with or without cutaneous involvement), histological and immunological profile. In an article published in July 2021, Italian clinicians examined the oro-maxillary sphere of 54 patients with myositis (22 with dermatomyositis, 29 with polymyositis and 3 … [Read more]
Specific 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]
