Myology research highlights

The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is … [Read more]

Physiotherapists are demanding of valid outcome measures to assess the evolution of their patient’s motor functions in order to precisely describe the effects of treatments and the progress of diseases. Hence, several scales such as the motor function measure (MFM) have been developed with the aim to measure, with validity and reproducibility and sensitivity, the … [Read more]

Current studies on orthopedic management of scoliosis in most severe SMA patients are limited to type 2 and 3 SMA with scoliosis evolving between 54 and 95°Cobbangle before spinal surgery. There is not available data on the therapeutic effects of orthopedic treatment of spine in type 1b SMA patients. This study evaluated the effectiveness of … [Read more]

Teams from Genethon and The Institute of Myology have demonstrated the efficacy of injecting a gene therapy product into the cerebrospinal fluid (CSF) of a spinal muscular atrophy (SMA) mouse model. Spinal muscular atrophy is related to abnormalities in the SMN1 gene, encoding the motor neuron survival protein, SMN. In SMA, a therapeutic approach involves … [Read more]

This 4‐year longitudinal study was designed to evaluate the clinical usefulness and sensitivity of muscle MRI in detecting fibro‐adipose degeneration in DMD. A total of 26 patients (baseline age: 5-12 years) with genetically proven DMD were longitudinally analyzed with lower limb 3T MRI, force measurements, and functional tests. Semiquantitative (scores) and quantitative MRI (qMRI) analyses … [Read more]

This prospective study compared muscle activation and coactivation in the lower limbs during the gait cycle in children with DMD with typically developing children of the same age. The activity of the rectus femoris (RF), vastus lateralis (VL), medial hamstrings (HS), tibialis anterior (TA) and gastrocnemius soleus (GAS) muscles was recorded and analysed quantitatively and … [Read more]

In France, corticosteroid therapy has been widely used for DMD since 2005 and has changed the practice of pediatric rehabilitation teams. Here, the authors describe their 10-year clinical experience of treating DMD patients with corticosteroids (CS) according to international guidelines i.e. prednisone 0.75mg/kg/day started from the plateau of motor function. Increased appetite, irritability, cushingoid facies … [Read more]

The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations … [Read more]

Assessment of dynamic inspiratory function may provide valuable information about the degree and progression of pulmonary involvement in patients with Duchenne muscular dystrophy (DMD). The aims of this study were to characterize inspiratory function and to assess the efficacy of idebenone on this pulmonary function outcome in a large and well-characterized cohort of 10-18 year-old … [Read more]

This phase III, double-blind, randomized, placebo-controlled, multicenter study examined the efficacy of deflazacort (DFZ) vs placebo and compares the efficacy and safety of DFZ with prednisone (PRED) in Duchenne muscular dystrophy (DMD). Muscle strength among 196 boys aged 5-15 years with DMD was evaluated during a 52-week period. In phase 1, participants were randomly assigned … [Read more]