Blog Archives
Dystrophin quantification: Biological and translational research implications
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]
CSF-delivered gene therapy shows promise for SMA
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]
An unusual case of carotid-cavernous fistula mimicking myasthenia gravis
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]
Dystrophin deficient rats: a new and promising model for DMD
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]
Effectiveness of innovative gene therapy treatment demonstrated in canine model of Duchenne muscular dystrophy
A collaboration involving three laboratories supported by the AFM-Telethon, Atlantic Gene Therapies (AFM-Telethon, Inserm UMR 1089, Université de Nantes,Nantes University Hospital), Généthon (Evry) and the Institute of Myology (Paris), demonstrated the effectiveness of an innovative gene therapy treatment in the canine model of Duchenne muscular dystrophy. This work, published in the journal Molecular Therapy in … [Read more]
Discover Telethon 2014 exceptional program !
The AFM-Telethon, France Télévisions and Garou, sponsor of Telethon 2014 invited everyone on december 5th and 6th, on France Télévisions channels and throughout France, for a spectacular new edition! 4 families to embody “The struggle of parents, children’s lives” Delphine Olivier, Beatrice, Fabrice, Sandrine, Eric, Naziha are parents of children with a rare disease. Whether … [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]
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]
AAN 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]
Characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
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]
