Myology research highlights

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 be devoted to science and research on muscle, associated disorders and dedicated therapeutic innovations. It will be chaired by Elizabeth McNally, Director of the Center for Genetic Medicine at Northwestern University … [Read more]

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. Myoglobin is the muscle equivalent of hemoglobin. It is used to store oxygen, to ensure its diffusion in the heart and muscles, and would protect the muscle cell against free … [Read more]

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 was in favor of demyelinating disease. From the age of 24, the patient presented several episodes of rhabdomyolysis during febrile events. The results highlighted:  abnormalities in the profile of acylcarnitines,  … [Read more]

• PXT3003 is a low dose combination of baclofen, naltrexone and sorbitol which is believed to act synergistically to inhibit the excessive expression of PMP22 in Charcot-Marie-Tooth disease type 1A.  • A phase III, double-blind trial evaluated two doses of PXT3003 in 323 people with CMT 1A for 15 months. It showed :  a decrease in … [Read more]

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 daily dose of 600 mg of mexiletine (Namuscla®) in 25 participants, 13 of which had myotonia congenita and 12 of which had paramyotonia congenita. Their symptoms had to be sufficiently … [Read more]

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 control group of healthy subjects:  absorption studies (DEXA-scan) showed in the JDM group a decrease in muscle mass in the lower limbs, even at a constant body mass index;  this … [Read more]

• 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 muscle damage for 81% of them, with decrease in muscle strength (40% of cases) and / or fatty infiltration visible on muscle MRI (72%);  this impairment is symptomatic in 57% … [Read more]

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. He died in 1329 at the age of 38, a few days after his victorious entry into Treviso. The few writings available report nausea and diarrhea in the hours before … [Read more]

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, frequency). North American researchers analyzed data from the placebo arms of two clinical trials testing the effectiveness of ataluren in patients with a stop mutation in the DMD gene, who … [Read more]

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 repeated injections may be a barrier for some patients.  Researchers studied health data from American patients with SMA, 23 type I, 48 type II and 260 type III, who received … [Read more]