Myology research highlights

Central Core Disease is a myopathy often arising from mutations in the RYR1 gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. In this study, the authors examined the pathological situation of a severely affected child with two recessive mutations, which resulted in a massive reduction in … [Read more]

The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 … [Read more]

Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disorder caused by mutations in LMNA, which encodes the nuclear scaffold proteins lamin A and C. In HGPS and related progerias, processing of prelamin A is blocked at a critical step mediated by the zinc metalloprotease ZMPSTE24. LMNA-linked progerias can be grouped into two classes: (1) the … [Read more]

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, what triggers muscle defect and when alteration arises remains obscure. To gain further insights into the molecular mechanisms of the disease, … [Read more]

Duchenne muscular dystrophy, a progressive muscle disorder that occurs in males, causes a gradual decline in muscle strength. This progressive decline is associated with the development of scoliosis. Previous studies have shown that the use of glucocorticoids slows the progression of scoliosis, but it is unknown if the spine remains straight in the long term. … [Read more]

Duchenne muscular dystrophy (DMD) is a severe inherited, muscle wasting disorder caused by mutations in the DMD gene. Gene therapy development for DMD has concentrated on vector-based DMD minigene transfer, cell-based gene therapy using genetically modified adult muscle stem cells or healthy wild-type donor cells, and antisense oligonucleotide-induced exon skipping therapy to restore the reading … [Read more]

Duchenne muscular dystrophy (DMD) typically occurs due to truncating mutations in the DMD gene that result in a lack of expression of the dystrophin protein in muscle fibers. A variety of therapies under development are directed toward restoring dystrophin expression at the subsarcolemmal membrane, including gene transfer. In a trial of intramuscular AAV-mediated delivery of … [Read more]

Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, the effect of salbutamol in five patients with Dok-7 CMS was analysed. Five patients (2 males and 3 females), with a mean age of 27±11.06years, who harboured … [Read more]

Mutations in FKRP gene are associated with a wide range of muscular dystrophies from mild limb-girdle muscular dystrophy (LGMD) 2I to severe Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The characteristic biochemical feature of these diseases is the hypoglycosylation of α-dystroglycan (α-DG). Currently there is no effective treatment available. In this study the Adeno-associated virus … [Read more]

DART Therapeutics Inc., an innovative, new-model biotechnology firm focused on developing therapies for Duchenne muscular dystrophy (DMD), has initiated a phase 1b/2a study of its lead drug candidate, HT-100 (delayed-release halofuginone). The phase 1b study (with a six-month 2a extension) in patients will determine the safety and tolerability of different, increasing doses of HT-100, and … [Read more]