Myology research highlights

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders. The major form of the disease (FSHD1) is linked to decrease in copy number of a 3.3-kb tandem repeated macrosatellite (D4Z4), located on chromosome 4q35. D4Z4 deletion alters chromatin structure of the locus leading to aberrant expression of nearby 4q35 genes. Given the … [Read more]

Few animal models of Duchenne muscular dystrophy (DMD) are available: large models such as pigs or dogs are expensive and difficult to handle. Mdx (X-linked muscular dystrophy) mice only partially mimic the human disease, with limited chronic muscular lesions and muscle weakness. Their small size also imposes limitations on analyses. A rat model could represent … [Read more]

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]

Tubular aggregate myopathies (TAMs) are muscle disorders characterised by abnormal accumulations of densely packed single-walled or double-walled membrane tubules in muscle fibres. Recently, STIM1, encoding a major calcium sensor of the endoplasmic reticulum, was identified as a TAM gene. The present study aimed to define the clinical, histological and ultrastructural phenotype of tubular aggregate myopathy … [Read more]

Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutations. Phenotype is variable with loss of ambulation in late teenage or late mid-life years. There is currently no treatment for this condition. In this BMD proof-of-principle clinical trial, a potent myostatin antagonist, follistatin (FS), was used to inhibit the myostatin … [Read more]

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]

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]

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]

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]

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]