Myology research highlights
RSS feedHereditary neuropathy with TFP protein deficiency responds to specific treatment
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]
Publication of the results of the PLEO-CMT trial evaluating the PXT3003 in CMT1A
• 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 confirms the interest of the prescription of mexiletine in non-dystrophic myotonias
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]
Norwegian study clarifies clinical profile of chronic forms of juvenile dermatomyositis
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]
Muscle damage in women transmitting DMD / DMB more common than expected
• 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]
Next-generation sequencing of mummified remains of 14th century Italian nobleman detects first known case of Pompe disease
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]
A meta-analysis highlights the superiority of deflazacort in DMD
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 in real life in the United States: a study highlights the difficulties of compliance
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]
Mechanisms and future treatments for myasthenia gravis debated at International Society of Neuroimmunology (ISNI) congress
Supported by AFM-Telethon, the 15th edition of the International Society of Neuro-immunology congress was held online from November 8 to 12, 2021. It was co-chaired by Prof. Sonia Berrih-Aknin, from the Institute of Myology. During a session dedicated to myasthenia gravis, in its communication, the Rozen Le Panse team: reminded that this complex disease of … [Read more]
Early muscle damage in Glycogenosis type IIIa
Glycogenosis type IIIa is a deficiency in a debranching enzyme. It initially results in hepatic disorders but can classically lead to muscle disorders and increased fatigue from the third decade of life. A muscle imaging study, supplemented by a serie of functional tests, was carried out in the United States in 17 sick children and … [Read more]
