Myology research highlights
RSS feedAutoimmune necrotizing myopathy in children, a diagnostic and therapeutic challenge
A German team publishes the results of the long-term follow-up of two children with autoimmune necrotizing myopathy, and highlights: the difficulties of this diagnosis in childhood due to its great rarity, an unspecific clinical picture (in the two children an impairment of the girdles with a sharp increase in CKemia and abnormal distribution of α-dystroglycan … [Read more]
No increased risk of osteoporotic fracture in myasthenia gravis despite corticosteroid therapy
A study conducted in Denmark in 376,858 adults who presented with a so-called “major” osteoporotic fracture (hip, radius, humerus or vertebra) between 1995 and 2011, compared to 376,858 control adults, shows that: the risk of this type of complication is not increased in patients with autoimmune myasthenia gravis on corticosteroid therapy, compared to those who … [Read more]
Description of the largest cohort of patients with a rare form of LGMD
An international consortium of researchers and clinicians has identified thirty patients with an excessively rare autosomal recessive limb girdle muscular dystrophy (LGMD type R6 linked to d-sarcoglycan deficiency). The clinical and biological data of twenty-three of them were collected and analyzed: the results illustrate the benefit of high throughput sequencing techniques for the diagnosis of … [Read more]
A monoclonal antibody effective against the fibrosis observed in DMD
In DMD, the fibrosis observed in both skeletal muscle and myocardium is the most often irreversible outcome of a process of degeneration of the muscle fiber. American researchers have developed a monoclonal antibody directed against the LTBP4 protein which interacts with the growth factor TGFb. Using this antibody have resulted in: in vitro, stabilization of … [Read more]
Study of a large British series of patients with congenital myotonia confirms the value of functional genetic studies
Patients with non-dystrophic myotonia represent a very small contingent of individuals compared to all patients with myotonia. British clinicians have studied 223 families in which a diagnosis of congenital myotonia linked to the chlorine channel has been identified. It appears that : the two different modes of transmission, autosomal dominant or autosomal recessive, are … [Read more]
The 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]
