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1385 news items
Research
The diaphragm, a predictor of restrictive respiratory failure in DMD patients
On 16/11/2021
Respiratory status is a key determinant of prognosis in patients with Duchenne muscular dystrophy (DMD), the most common myopathy in children. The disease results in…
Research
The measured impact of Covid-19 in neuromuscular patients during the first French confinement
On 16/11/2021
The French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) and patient associations, notably the AFM-Telethon, conducted a multicenter study during the first wave of…
Research
A motion analysis tool without body sensors developed for the objective assessment of movement in children with SMA
On 15/11/2021
To overcome the shortcomings of functional scales in children such as CHOP-INTEND, German researchers have developed and tested a method for capturing and analyzing movement…
Research
Dual therapy, more effective in SMA?
On 12/11/2021
The question of dual therapy, to gain in efficiency, is arising in SMA. Still, few studies have been published on this subject so far. Early…
Research
Autoimmune necrotizing myopathy in children, a diagnostic and therapeutic challenge
On 10/11/2021
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…
Research
No increased risk of osteoporotic fracture in myasthenia gravis despite corticosteroid therapy
On 10/11/2021
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,…
Research
Description of the largest cohort of patients with a rare form of LGMD
On 10/11/2021
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…
Research
A monoclonal antibody effective against the fibrosis observed in DMD
On 05/11/2021
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…
Research
Study of a large British series of patients with congenital myotonia confirms the value of functional genetic studies
On 04/11/2021
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…
Research
The combination of two functional scores is useful to establish orthosis indications in CMT
On 03/11/2021
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…
Research
Soft chest orthosis improves upper limb function in case of shoulder blade detachment
On 03/11/2021
Many neuromuscular diseases can lead to detachment of the shoulder blades (scapula alata) causing functional and aesthetic discomfort, or even severe pain. Researchers at…
Research
MLIP: a new autosomal recessive gene responsible for rhabdomyolysis
On 03/11/2021
Rhabdomyolysis is a heterogeneous group of pathologies at the genetic level. An international consortium reports: for the first time the involvement of the MLIP…
Research
Post hoc analysis and case report support dichlorphenamide in muscle channelopathies
On 03/11/2021
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…
Research
Maxillary and oral disorders should be investigated in inflammatory myopathies
On 02/11/2021
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),…
Research
Specific anthropometric curves for patients with SMA ?
On 02/11/2021
Many children with spinal muscular atrophy (SMA) experience growth difficulties and weight problems as they progress. Italian researchers studied anthropometric data (height and weight)…
Research
Interesting genotype-phenotype correlations in a French cohort of patients with neuromuscular disease
On 29/10/2021
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…
Research
114DG11: a therapeutic hope for polyglucosans myopathies
On 28/10/2021
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…
Research
German recommendations for the diagnosis of hereditary or acquired neuropathies in pediatrics
On 28/10/2021
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.…
Research
CMD linked to LAMA2 deficiency: a pattern of specific muscle damage emerges on MRI
On 27/10/2021
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…
Research
A machine learning module for the diagnosis of FSH
On 26/10/2021
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…