Blog Archives
Guidance for the care of NM patients during the COVID-19 pandemic outbreak from FILNEMUS
In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance … [Read more]
The Institute of Myology is recruiting a Helpdesk Assistant (M/F)
Located in Paris at the heart of the largest European hospital, Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. The Institute of Myology coordinates, around the patient, medical care, basic research, applied research, clinical research and teaching. The main objective of the post is to promote and provide helpdesk … [Read more]
International recommendations for cardiological management in DM1 and DM2
Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases, especially in adulthood. DM2, formely PROMM (for proximal myotonic myopathy), is much rarer except in Germany and Eastern Europe. DM1 and DM2 are due to expansions of nucleotides in the DMPK and ZNF9 genes respectively, with the common consequence being the sequestration … [Read more]
Alpha-dystroglycanopathies and neuromuscular junction disorders: a frequent but differentiated association
Limb Girdle Muscular Dystrophies (LGMD) and myasthenic syndromes form basically two distinct groups of neuromuscular pathologies. The first result in a more or less progressive deficit of the pelvic and shoulder girdles while the second cause ocular and bulbar symptomatology, with or without fluctuating character. In recent years, numerous observations of abnormalities in postsynaptic transmission … [Read more]
Should we screen and treat forms of SMA with four copies of the SMN2 gene ?
Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children. There are 3 types (from I to III) depending on the age of onset of symptoms and the maximum functional abilities reached. Recently, innovative curative therapies have emerged, whether it is nusinersen (Spinraza®), onasemnogene abeparvovec-xioi (Zolgensma®) or risdiplam™… As numerous studies have shown, … [Read more]
DMD: a review of the literature demonstrates the increase in life expectancy
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in boys. It causes progressive motor deficit predominant in the root muscles and then spreads to the respiratory muscles and the heart, all together leading to premature death. With the improvement and standardization of medical and surgical management of this pathology an increased longevity and … [Read more]
Study of grip strength in patients with DMD – Interview with J.-Y. Hogrel
The team at the Neuromuscular Physiology and Evaluation Laboratory of the Institute of Myology participated with, in particular, clinicians from I-Motion, in a study intended to assess grip strength in patients with Duchenne Muscular Dystrophy. The results were published in March 2020, in the Journal of Neurology*. Interview with Jean-Yves Hogrel, Head of the Laboratory. … [Read more]
DM1 accompanied with normal pressure hydrocephalus: a case report and literature review
Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognitive impairment and urinary incontinence. The association between DM1 and NPH is extremely rare. The authors report a Chinese female patient with DM1 in … [Read more]
DMD and implantable cardiac defibrillator: an inventory in Northern America
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in boys. It is linked to the genetically determined absence of the dystrophin, a major muscle fiber protein. DMD causes progressive motor deficit predominant in the root muscles and then spreads to the respiratory muscles and the heart, all together leading to premature death. With … [Read more]
Palliative care and SMA type I: the results of a study conducted in France
Infant spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children. There are 3 types (from I to III) depending on the age of onset of symptoms and the maximum functional abilities reached. In type I, paralysis begins before the age of six months and most children die before the age of … [Read more]
