Blog Archives
FSHD: a new european network for clinical trials
On the initiative of FSHD Europe association, in which the AFM-Telethon is involved, a European network of clinical trials in FSH has just been created with the aim of connecting European clinicians involved in FSH and to facilitate the setting up of future clinical trials, to make future treatments more accessible, etc. This network is … [Read more]
Treating cardiomyopathy earlier with angiotensin converting enzyme inhibitors preserves heart function in BMD
Becker muscular dystrophy (BMD) is the result of a partial dystrophin deficiency. Approximately 40% of adults with BMD present dilated cardiomyopathy, including 15% of under 20-year-olds and 55% of over 40-year-olds. International cardiological guidelines recommend the prescription of angiotensin converting enzyme (ACE) inhibitors when the left ventricular ejection fraction (LVEF) drops below 40%. A retrospective … [Read more]
Reprogrammed pluripotent stem cells: formidable tools to test innovative neuromuscular disease therapies
In the field of innovative therapies for neuromuscular diseases, having access to a model, whether cell or animal, for a given disease is a major benefit. These models make it possible to test several therapeutic hypotheses on a large scale, and are usually a prerequisite to starting human trials. Since animal models are rare in … [Read more]
Type II and III SMA: positive effects of nusinersen, greater impact on motor function than on respiratory function
Of the many forms of spinal muscular atrophy (SMA), the form causing predominately proximal muscle deficit and associated with a lack of the SMN protein is by far the most common form in children. This condition is diagnosed by identifying a homozygous deletion in the SMN1 gene, found in 98% of cases. The prognosis can, … [Read more]
The Summer School of Myology is changing, becoming AcadeMYO – Interview with Norma B. Romero and J. Andoni Urtizberea
The Institute’s Summer School of Myology becomes AcadeMYO this year. Entirely virtual, it will take place from July 5th to 9th, in partnership with the European Reference Network EURO-NMD. The new digital format includes a significant portion of pre-available video courses (approximately 40 recorded lessons) and further lessons and interactive workshops broadcast live. During interactive … [Read more]
Motor neurons and myotubes interact via secreted endogenous neuronal and muscle growth factors
Neuromuscular junction (NMJ) research is essential to advance the understanding of neuromuscular pathophysiology and the development of new therapies for diseases associated with NMJ dysfunction. In vivo, the microenvironment of NMJ has a significant impact on the formation and maturation of NMJ via neurotrophic factors and differentiation factors that are secreted as a result of … [Read more]
A heterozygous variant of the calpain 3 gene causing camptocorm syndrome
Calpainopathies are a subgroup of limb girdle muscular dystrophies whose symptoms usually appear in early adolescence. In the vast majority of cases, this neuromuscular disease, which affects several hundred people in France, many of them in La Reunion, is transmitted on an autosomal recessive mode. Autosomal dominant forms have been reported in recent years, in … [Read more]
At AAN Congress, nipocalimab demonstrates efficacy and good tolerance in generalized myasthenia gravis
Neonatal Fc receptors (FcRn) prevent the degradation of immunoglobulins G (IgG), promoting their recycling. Nipocalimab is a monoclonal antibody directed against FcRn giving hope for a drop in the serum IgG level and therefore a reduction in circulating autoantibodies in various autoimmune diseases. Biological and clinical benefits Developed by Momenta Pharmaceuticals, a biotech acquired by … [Read more]
Oculopharyngodistal myopathy: already 3 genes identified
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are due to a a repeat expansion of triplets. OPDM is much rarer than DMOP and is distinguished by the topography of muscle involvement in the limbs and the genes involved. In oculopharyngeal muscular dystrophy, the muscle damage is proximal and the abnormality involves the PABPN1 … [Read more]
New study supports leuprorelin in Kennedy disease
Kennedy’s disease is a relatively slow-growing motor neuron disease. Among the various clinical signs, swallowing disorders strongly affect the quality of life of patients. Leuprorelin, a gonadotropin releasing hormone (GnRH) analogue already used in the treatment of prostate cancer, reduces the production of testicular androgens. Administered to Kennedy disease mouse models, leuprorelin improves their motor … [Read more]
