Myology research highlights

Myotonic dystrophy type 1 (DM1) is a genetic disease transmitted according to an autosomal dominant mode, with a multisystemic phenotypic expression. Muscles, heart, lens, central nervous system and endocrine glands are target organs. The risk of type 2 diabetes in particular is much higher in patients with DM1 than in the general population. French work … [Read more]

In a letter to the editor published in May 2020, a Japanese team reports their experience of treatment with nusinersen of the oldest patient treated to date. This 71-year-old female patient has SMA type 4. She has a deletion in the SMN1 gene and 4 copies of the SMN2 gene. Her first motor problems appeared … [Read more]

Facio-scapulo-humeral muscular dystrophy (FSH) is characterized by a relaxation of chromatin as well as a decrease (hypomethylation) of DNA in the D4Z4 region of chromosome 4, causing the expression of the DUX4 gene which codes for the eponymous transcription factor. Two forms of FSH: type 1 FSH (in 95% of cases) linked to a decrease … [Read more]

A detachment of the shoulder blades of varying importance is present in many neuromuscular diseases. Linked to weakness in the muscles fixing shoulder blades, the phenomenon is the cause of disfigurement, sometimes major functional discomfort and, sometimes, painful phenomena. This is especially true in facio-scapulo-humeral myopathy (FSH) where this detachment is constant and very pronounced. … [Read more]

Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children. There are 3 types (from I to III) depending on the age of onset of symptoms and the maximum functional abilities reached. Adult patients most often have SMA type II or III who have “aged” and much more rarely type I or … [Read more]

The Biogen laboratory that develops nusinersen (Spinraza®) communicated at the annual international Cure SMA conference (which took place in virtual mode from June 10 to 12, 2020) new results from the NURTURE trial, conducted in 25 infants with presymptomatic SMA. After treatment with nusinersen started before the age of 6 weeks and continued continuously up … [Read more]

Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children. There are 3 types (from I to III) depending on the age of onset of symptoms and the maximum functional abilities reached. Especially in types I and II, SMA is the cause of paralysis, often progressing to respiratory failure and severe orthopedic deformities, … [Read more]

Neuromuscular diseases (NMD) are characterized by their great diversity, both clinically and genetically. They affect children as well as adults and have in common the impairment of one or more elements making up the motor unit. The vast majority are linked to genetic defects, especially in the pediatric population, but it can have another origin, … [Read more]

The Israeli population, encompassing 9 million citizens, is comprised of diverse communities. The Ministry of Health genetic screening program for reproductive purposes was introduced in 2013. This program is mainly aimed at severe incurable diseases with high rates of infant and childhood morbidity and/or mortality, with a carrier frequency of at least 1:60 and/or a … [Read more]

Neuromuscular diseases (NMD) are characterized by their great diversity, both clinically and genetically. They affect children as well as adults and have in common the impairment of one or more elements making up the motor unit. The vast majority are linked to genetic defects, especially in the pediatric population, but it can have another origin, … [Read more]