Myology research highlights

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the … [Read more]

In this study, the authors aimed to evaluate the ability of four clinical methods to reflect arm and hand function at impairment and activity level and to determine their ability to discriminate among SMA II patients of all ages and in all stages of the disease. Fifty-two patients with SMA II (age range: 8-73 years) … [Read more]

 This 1st call for proposals launched by the  French Foundation for  rare  diseases  aims  to  directly support intermediary key  steps towards  clinical  development for patient.The objective is to support pilot scientific projects at the interface between the in vivo proofs of principle, usually in rodents, and the development of a clinical application in human patients.Submission deadline … [Read more]

Interim results of a phase 2 clinical trial to test multiple doses of the experimental drug ISIS-SMNRx in infants with spinal muscular atrophy (SMA) suggest that the drug is well-tolerated and may prolong ventilator-free survival. The drug is designed to increase the level of full-length, fully functional SMN. In the ongoing phase 2 trial, doses … [Read more]

Autosomal recessive centronuclear myopathy (CNM2), caused by mutations in bridging integrator 1 (BIN1), is a mildly progressive neuromuscular disorder characterized by abnormally centralized myonuclei and muscle weakness. BIN1 is important for membrane sensing and remodeling in vitro in different cell types. However, to fully understand the biological roles of BIN1 in vivo and to answer … [Read more]

In this study, the authors evaluated facial memory ability (FMA) in patients with myotonic dystrophy type 1 (DM1). They also explored the relationship between FMA and neuropsychological data, disease-related factors, and CTG repeat expansion size. Patients with DM1 (n = 33) and healthy subjects (n = 30) were tested with the faces task of the … [Read more]

Autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are characterized by clinical and genetic heterogeneity. LGMD type 2C, or γ-sarcoglycanopathy, is the most frequent in North African populations as a result of the founder c.525delT mutation in the SGCG gene. Its epidemiology is poorly known in Morocco, and its prevalence among the Moroccan population has never been … [Read more]

Congenital muscular dystrophies (CMD) with hypoglycosylation of α-dystroglycan are clinically and genetically heterogeneous disorders that are often associated with brain malformations and eye defects. Presently, 16 proteins are known whose dysfunction impedes glycosylation of α-dystroglycan and leads to secondary dystroglycanopathy. In this study, the authors aimed to identify the cause of CMD with secondary merosin … [Read more]

 X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been described, knowledge about the relation between these syndromes, the phenotypic spectrum in patients and female carriers, and the … [Read more]

The aim of this prospective longitudinal multi centric study was to evaluate the correlation between the Hammersmith Functional Motor Scale and the 20-item version of the Motor Function Measure in non-ambulant SMA children and adults at baseline and over a 12-month period. Seventy-four non-ambulant patients performed both measures at baseline and 49 also had an … [Read more]