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1385 news items
Research
Galectin-1: an innovative therapeutic approach in dysferlinopathies
On 07/01/2022
American researchers have developed a therapy aimed at correcting the phenotypes observed in dysferlinopathies (Miyoshi-type distal myopathy and LGMD type R2). Galectin-1, a beta-like galactoside…
Research
International guidelines for glycogen storage disease V & VII
On 06/01/2022
Gathered at the initiative of the International Association for Muscle Glycogen Storage Disease, European and North American specialists have developed practical guidelines for the diagnosis,…
Research
Congenital myopathy due to SPEG deficiency is very commonly associated with severe cardiomyopathy
On 05/01/2022
Congenital myopathy with recessive SPEG gene mutations has been relatively recently discovered (2014) and remains extremely rare. It generally combines centronuclear-type myopathy and cardiomyopathy. Brazilian…
Research
A technological breakthrough in non-invasive prenatal screening for DMD
On 04/01/2022
The presence of foetal cells circulating in maternal blood theoretically enables, to detect gene abnormalities of all kinds, this research falling within the scope of…
Research
A European position statement on the role of rehabilitation physicians in the care of patients with muscular dystrophy
On 04/01/2022
The Physical Medicine and Rehabilitation specialist (PMR) plays a key role in the management of patients with muscular dystrophy. Based on an exhaustive analysis of…
Research
Chronic pain, a symptom to look for in LGMD
On 03/01/2022
The Danish National Rehabilitation Center for Neuromuscular Diseases conducted a study on pain in girdle myopathies (LGMD). It brought together 121 adult patients, aged 19…
Research
Liver damage in myotubular myopathy
On 27/12/2021
Hepatobiliary involvement, such as gallstones or peliosis hepatis, has been reported in several cases of myotubular myopathy since the 1990s. It was found in 7%…
Research
MADD deficiency is particularly common in China and responds to vitamin therapy
On 27/12/2021
Multiple acyl-CoA dehydrogenase (MADD) deficiency is a rare inherited disease affecting fatty acid oxidation. It can result, in its late onset form, by a muscle…
Research
McArdle disease phenotype description enriched with muscle imaging data
On 24/12/2021
Fifteen adults aged 25 to 80 with McArdle myopathy, a metabolic neuromuscular disease caused by myophosphorylase deficiency, underwent muscle imaging examinations at the Garches Reference…
Research
Clinical outcomes of two new generation enzyme therapies in Pompe disease
On 23/12/2021
• The results of two phase III clinical trials evaluating new-generation double-blind enzyme therapies in late-onset Pompe disease against Myozyme were published in December 2021. •…
Research
A natural history study in a population of children with FSHD
On 22/12/2021
Dutch specialists were interested in 20 patients with facio-scapulo-humeral myopathy (FSH) aged between 2 and 17 years. Among them were patients with the infantile form…
Research
Hereditary neuropathy with TFP protein deficiency responds to specific treatment
On 21/12/2021
Chinese clinicians report the observation of a 29-year-old female patient with a childhood motor deficit in the lower limbs labeled Charcot-Marie-Tooth disease (CMT). The EMG…
Research
MYOLOGY 2022 – sept. 12-15 & mitoNice – sept. 15-17
On 20/12/2021
Save the date! The MYOLOGY 2022 international congress, organized by the AFM-Téléthon, will be held from September 12 to 15, 2022 in Nice and will…
Research
Advances in the pathophysiology of myoglobinopathy
On 20/12/2021
Myoglobinopathy is an ultra-rare autosomal dominant neuromuscular disease first described in 2019 and caused by a His98Tyr mutation in the MB gene that encodes myoglobin.…
Research
The Myomex trial confirms the interest of the prescription of mexiletine in non-dystrophic myotonias
On 17/12/2021
The Myomex trial, conducted by the AP-HP (the Paris public hospital system) and supported by AFM-Téléthon, evaluated the efficacy and safety versus placebo of a…
Research
Norwegian study clarifies clinical profile of chronic forms of juvenile dermatomyositis
On 16/12/2021
Chronic forms of juvenile dermatomyositis (JDM) represent a therapeutic challenge. Norwegian clinicians studied a cohort of 59 patients with JDM which they compared to a…
Research
Muscle damage in women transmitting DMD / DMB more common than expected
On 16/12/2021
• A cross-sectional study of 53 women with pathological abnormalities of the DMD gene, leading to either DMD (33/53) or BMD (20/53) showed: signs of…
Research
Next-generation sequencing of mummified remains of 14th century Italian nobleman detects first known case of Pompe disease
On 16/12/2021
Science can sometimes solve historical puzzles, such as the one surrounding the death of Alberto Canfrancesco della Scala, Lord of Verona and protector of Dante.…
Research
A meta-analysis highlights the superiority of deflazacort in DMD
On 15/12/2021
Glucocorticoids are the standard treatment for Duchenne muscular dystrophy (DMD). There is no consensus on the type of steroid and the method of administration (doses,…
Research
Nusinersen in real life in the United States: a study highlights the difficulties of compliance
On 15/12/2021
Nusinersen is an antisense oligonucleotide that has been used in the treatment of SMA since 2016. Its method of administration (intrathecal) and the need for…