Blog Archives
Muscle activation during gait in DMD
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]
Ten-year clinical experience with corticotherapy for DMD patients
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]
Expanding the clinical spectrum of human diseases caused by reduced choline transporter 1
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]
Idebenone and inspiratory muscle function in DMD patients
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]
Deflazacort is better tolerated and results in a lower incidence of weight gain than prednisone
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]
WMS 2016 – The Institute rewarded with several awards
The 21st International Congress of the World Muscle Society was held from 4 to 8 October in Granada, Spain. This conference is an opportunity to bring together researchers, clinicians and neuropathologists worldwide and to take stock of the latest advances in myology on an international scale. On this occasion, prizes were awarded to researchers for … [Read more]
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. It describes the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. The study revealed a high degree of variability in disease onset, pattern of weakness, … [Read more]
Detection of MME mutations and late-onset polyneuropathies
Axonal polyneuropathies are a frequent cause of progressive disability in the elderly. Common etiologies comprise diabetes mellitus, paraproteinaemia, and inflammatory disorders, but often the underlying causes remain elusive. Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the second half of life and is genetically largely unexplained. Age-dependent penetrance of mutations … [Read more]
Expanding the phenotypical spectrum of KLHL40 related nemaline myopathy
Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. This report describes an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor … [Read more]
The Myotubular Trust call for projects
The Myotubular Trust is launching its 7th call for projects. This call is open to international and innovative projects. The Myotubular Trust is looking to fund further projects that will help find a cure and/ or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant). … [Read more]
