Blog Archives
Liver damage in myotubular myopathy
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% of participants in the Recensus study or the natural history study NatHis-MTM. With the death from severe hepatic insufficiency of three participants in the ASPIRO trial receiving the highest dose … [Read more]
McArdle disease phenotype description enriched with muscle imaging data
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 Centre. The whole-body muscle MRI from which they benefited made it possible to analyze 60 muscles in particular and to specify the phenotype: 13 of the 15 patients presented signs … [Read more]
Clinical outcomes of two new generation enzyme therapies in Pompe disease
• 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. • Both treatments were well tolerated and they preserved or even improved patients’ walking and breathing capacity after one year of treatment. Avalglucosidase alfa (Nexviadyme), evaluated in the COMET trial in … [Read more]
A natural history study in a population of children with FSHD
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 of the disease (with onset before the age of 5). The patients were followed at the functional level but also by muscle imaging for two years: if the disease progresses … [Read more]
MYOLOGY 2022 – sept. 12-15 & mitoNice – sept. 15-17
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]
Advances in the pathophysiology of myoglobinopathy
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]
Hereditary 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]
