Myology research highlights

No treatment is available for patients affected by the recessively inherited, progressive muscular dystrophies caused by a deficiency in the muscle membrane repair protein dysferlin. A marked reduction in dysferlin in patients harboring missense mutations in at least one of the two pathogenic DYSF alleles encoding dysferlin implies that dysferlin is degraded by the cell’s … [Read more]

Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by DMD gene mutations leading to absence of the full-length dystrophin protein in muscle. Multiple dystrophin isoforms are expressed in brain, but little is known about their function. DMD is associated with specific learning and behavioral disabilities that are more prominent in patients with … [Read more]

Most mutations that truncate the reading frame of the DMD gene cause loss of dystrophin expression and lead to Duchenne muscular dystrophy. However, amelioration of disease severity has been shown to result from alternative translation initiation beginning in DMD exon 6 that leads to expression of a highly functional N-truncated dystrophin. Here, the authors demonstrate … [Read more]

Multidisciplinary management of Duchenne Muscular Dystrophy (DMD) has achieved outstanding results in developed nations. This study aimed to describe the status of diagnosis and management of DMD in a developing country through the experience of non-profit organizations. A multistate, multiple-source, population-based survey was performed from medical records of 432 patients. Data were retrospectively collected, reviewed … [Read more]

Isis Pharmaceuticals has initiated a pivotal Phase III study evaluating ISIS-SMNRx in infants with spinal muscular atrophy (SMA), the most common genetic cause of infant mortality. The Phase III study entitled ENDEAR, is the first of several planned studies in a broad and comprehensive late-stage clinical development program for ISIS-SMNRx.  ENDEAR is a randomized, double-blind, … [Read more]

Mutations in fukutin-related protein (FKRP) gene cause a wide spectrum of disease phenotypes including the common limb-girdle muscular dystrophy 2I (LGMD2I), the severe Walker-Warburg syndrome, and muscle-eye-brain disease. FKRP deficiency results in α-dystroglycan (α-DG) hypoglycosylation in the muscle and heart, which is a biochemical hallmark of dystroglycanopathies. To study gene replacement therapy, the authors generated … [Read more]

There are no validated criteria for the diagnosis of sensory neuronopathy (SNN) yet. In a preliminary monocenter study, a set of criteria relying on clinical and electrophysiological data showed good sensitivity and specificity for a diagnosis of probable SNN. The aim of this study was to test these criteria in a French multicenter study. A … [Read more]

This study reports on a 5-year-old girl who presented with an association of symptoms reminiscent of an Ullrich-like congenital muscular dystrophy including congenital hypotonia, proximal joint contractures, hyperlaxity of distal joints, normal cognitive development, and kyphoscoliosis. There was an excess of neuromuscular spindles on the skeletal muscle biopsy. This very peculiar feature on muscle biopsy … [Read more]

To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. In this observational study based on data previously collected from several cohorts, the Motor Function Measure (MFM) was examined for robustness and changes are proposed for better adequacy. A total of 289 patients aged 5 to 77 … [Read more]

In this article, the author discusses the case for systematic genetic screening of newborns and children at-risk of developing or carrying mutations for Duchenne Muscular Dystrophy (DMD). Belgium remains the only country to conduct systematic newborn screening and follow-up testing for DMD. Germany, Wales and Canada have abandoned DMD routine genetic testing and the US … [Read more]