Myology research highlights
RSS feedAAN releases guideline for LGMD diagnosis and treatment
The American Academy of Neurology (AAN) has reviewed the current evidence and made practice recommendations regarding the diagnosis and treatment of all forms of limb-girdle muscular dystrophy (LGMD) and some forms of distal muscular dystrophy (DD). Most LGMDs are rare, with estimated prevalences ranging from 0.07 per 100,000 to 0.43 per 100,000. The frequency of … [Read more]
Clinical aspects of patients with sarcoglycanopathies under steroids therapy
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies. Patients usually present with progressive weakness leading to early loss of ambulation and premature death. No effective treatment is currently available. Here, the authors present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. Patient files were … [Read more]
Preimplantation diagnosis using next generation sequencing identifies a rare genetic disease
The use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. The following study reports the first case of preimplantation diagnosis through NGS of a form of LAMA2-related muscular dystrophy. A couple went to the Reproductive Medicine Centre for a preconceptional genetic consultation and … [Read more]
Reliability of the motor function measure in Charcot-Marie-Tooth disease
In this descriptive study, the applicability and responsiveness of the motor function measure (total score and sub-scores D1, D2 and D3) in 233 patients aged 4-86 years, with Charcot-Marie-Tooth disease was investigated. Scores and sub-scores were analyzed by age and by disease subtypes. Sensitivity to change (responsiveness) was estimated in patients having had at least … [Read more]
Asynchronous regeneration drives muscle fibrosis in DMD patients
This study aimed to determine the mechanisms underlying failure of muscle regeneration that is observed in dystrophic muscle through hypothesis generation using muscle profiling data (human dystrophy and murine regeneration). The authors found that transforming growth factor β-centered networks strongly associated with pathological fibrosis and failed regeneration were also induced during normal regeneration but at … [Read more]
New Guideline provides direction for the diagnosis and treatment of limb-girdle muscular dystrophies
This report reviews the current evidence and makes practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs). The authors establish that most LGMDs are rare, with estimated prevalences ranging from 0.07 per 100,000 to 0.43 per 100,000. The frequency of some muscular dystrophies varies based on the ethnic background of the population … [Read more]
Lambert-Eaton Myasthenic Syndrome study shows promising results
Firdapse (amifampridine phosphate) a leading drug from Catalyst Pharmaceutical Partners Inc, has demonstrated superior results compared to placebo for treating symptoms associated with the rare autoimmune disorder Lambert-Eaton Myasthenic Syndrome (LEMS). LEMS is a neuromuscular disease causing progressive muscle weakness, and it is often associated with cancer. All patients in the phase III randomized “withdrawal” … [Read more]
PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?
McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. In severe cases, these manifestations can be accompanied by rhabdomyolysis, myoglobinuria, and fatal renal failure. Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence … [Read more]
Tubular aggregate myopathy resulting from dominant mutations in ORAI1
The store-operated Ca2+ release-activated Ca2+ (CRAC) channel is activated by diminished luminal Ca2+ levels in the endoplasmic reticulum and sarcoplasmic reticulum, and constitutes one of the major Ca2+ entry pathways in various tissues. Tubular aggregates are abnormal structures in the skeletal muscle, and although their mechanism of formation has not been clarified, altered Ca2+ homeostasis … [Read more]
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have been described in 9 genes to date, but the genetic basis remains unknown in many cases. Here, using an approach that combined whole-exome sequencing (WES) and Sanger sequencing, the authors identified homozygous … [Read more]
