Myology research highlights

Dutch researchers investigated how the body mass index (BMI-z) of children and adolescents with Duchenne muscular dystrophy changed over time. For this purpose, they retrospectively studied the clinical records of 159 ambulant and non-ambulant patients, some of whom were receiving long-term corticosteroid therapy. Their study showed that : 790 BMI-z scores were analysed against World … [Read more]

CHCHD10-related spinal muscular atrophy, or SMAJ, is a very rare disease described by Finnish researchers. It is of mitochondrial origin, mainly affects adults and is transmitted in an autosomal dominant mode. The same researchers compared several neuronal and muscular markers in a cohort of 49 patients and in healthy controls: surprisingly, the neurofilament Nfl, a … [Read more]

Plectin is one of the intermediate filaments essential for maintaining the architecture of the cell. Its deficiency can lead to various cutaneous or neuromuscular pathologies (myofibrillary myopathy, muscular dystrophy, congenital myasthenic syndrome). Spanish researchers report the observation of a 30 year old patient with both epidermolysis bullosa and muscular dystrophy, in whom : on the … [Read more]

Early forms of SMN1-related proximal spinal muscular atrophy are very often accompanied by swallowing disorders and salivary stasis. Canadian clinicians report the case of a 17-month-old child with SMA type I who received several injections into the submaxillary and parotid glands to combat chronic hypersialorrhoea: the child experienced increased hypotonia and regression of modest motor … [Read more]

Video oculography (VOG) is a simple, non-invasive technique of recording eye movements using digital cameras. It could prove useful in the diagnosis of certain forms of myasthenia gravis, as proposed by Turkish clinicians in a study involving 18 myasthenic patients and 50 volunteers: the investigators used an EyeSeeCam device to measure eye saccades in several … [Read more]

Australian geneticists and clinicians report on the value of the so-called ‘long-length sequencing’ technique for searching for mutations in the SORD gene. The SORD gene is responsible for one of the most common forms of autosomal recessive axonal Charcot-Marie-Tooth disease (CMT2-AR). This shows that : the reading of longer sequences avoids interpretation errors linked to … [Read more]

In a cohort of 92 people with FSHD1 (n=88) or FSHD2 (n=4), the number of participants with a restrictive syndrome increased from 41 to 48 over five years. Mean vital capacity (VC) decreased from 79% to 76.7%, with individual variations ranging from a decrease of 33.5% to an increase of 23.6%. The Tiffeneau coefficient increased … [Read more]

A retrospective European study analysed data from 4 patients treated with ataluren for a mean of 2.8 years and followed independently for at least 4 years in Italy (2), the UK (1) and Israel (1). In this study: •  The four women received treatment at ages 9, 26, 29 and 43 years and for an … [Read more]

Limb-girdle muscular dystrophy R9 (LGMDR9) is caused by a deficiency of FKRP. FKRP allows the addition of ribitol-5-phosphate, a molecule made from ribitol, to the sugar chain already formed by the action of other enzymes. Oral intake of BBP-418 (ribitol) is intended to increase glycosylation of α-dystroglycan by saturating FKRP with substrate. A Phase I … [Read more]

High-throughput sequencing studies (NGS for Next-Generation-Sequencing) allow to better specify the molecular signature of this neuromuscular disease characterized by an extreme genetic heterogeneity, but also to uncover digenism phenomena as demonstrated by a Chinese study in which : 189 families with a phenotype compatible with Charcot-Marie-Tooth disease (CMT) were explored in NGS, with a prior … [Read more]