Myology research highlights

In-frame exon deletions of the DMD gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of Duchenne muscular dystrophy (DMD). In this study, the suthors hypothesized that differences in the structure of mutant dystrophin may be responsible for the clinical heterogeneity observed in Becker patients and they … [Read more]

A multi-institution collaboration was formed to compare dystrophin quantification methods, reach a consensus on the most reliable method, and report its biological significance in the context of clinical trials. Five laboratories with expertise in dystrophin quantification performed a data-driven comparative analysis of a single reference set of normal and dystrophinopathy muscle biopsies using quantitative immunohistochemistry … [Read more]

Spinal Muscular Atrophy (SMA) is the most frequent lethal genetic neurodegenerative disorder in infants. The disease is caused by low abundance of the survival of motor neuron (SMN) protein leading to motor neuron degeneration and progressive paralysis. The authors have previously demonstrated that a single intravenous injection (IV) of self-complementary adeno-associated virus 9 carrying the … [Read more]

A carotid-cavernous fistula (CCF) is an abnormal communication between the carotid arterial system and the cavernous sinus. Common symptoms of CCFs include proptosis and ophthalmoplegia, but fluctuating diplopia and presence of ptosis are not typical. Here, the authors present an unusual case of CCF with fluctuating binocular diplopia and ptosis, mimicking myasthenia gravis. Electrodiagnostic testing, … [Read more]

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]

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]