Blog Archives
A review of the literature highlights the positive results of surgical fixation of the scapula in FSH
A detachment of the shoulder blades of varying importance is present in many neuromuscular diseases. Linked to weakness in the muscles fixing shoulder blades, the phenomenon is the cause of disfigurement, sometimes major functional discomfort and, sometimes, painful phenomena. This is especially true in facio-scapulo-humeral myopathy (FSH) where this detachment is constant and very pronounced. … [Read more]
Feedback from nusinersen in adults with SMA
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. Adult patients most often have SMA type II or III who have “aged” and much more rarely type I or … [Read more]
Longer-term confirmation of positive results from NURTURE trial in presymptomatic SMA
The Biogen laboratory that develops nusinersen (Spinraza®) communicated at the annual international Cure SMA conference (which took place in virtual mode from June 10 to 12, 2020) new results from the NURTURE trial, conducted in 25 infants with presymptomatic SMA. After treatment with nusinersen started before the age of 6 weeks and continued continuously up … [Read more]
A novel approach for posterior spinal instrumentation and fusion taking into account treatment with nusinersen
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. Especially in types I and II, SMA is the cause of paralysis, often progressing to respiratory failure and severe orthopedic deformities, … [Read more]
Dysphagia and dysarthria in children with NMD: about a Dutch survey
Neuromuscular diseases (NMD) are characterized by their great diversity, both clinically and genetically. They affect children as well as adults and have in common the impairment of one or more elements making up the motor unit. The vast majority are linked to genetic defects, especially in the pediatric population, but it can have another origin, … [Read more]
Impact of a national genetic carrier-screening program for reproductive purposes
The Israeli population, encompassing 9 million citizens, is comprised of diverse communities. The Ministry of Health genetic screening program for reproductive purposes was introduced in 2013. This program is mainly aimed at severe incurable diseases with high rates of infant and childhood morbidity and/or mortality, with a carrier frequency of at least 1:60 and/or a … [Read more]
COVID-19 and the organisation of the neuromyology consultation – 5 questions for Isabelle Coupa
Interview with Isabelle Coupa, Nursing Manager at the Institute of Myology’s Service of Neuro-Myology. If I could ask you who you are and what your mission is? I am Isabelle Coupa, Nursing Manager at the Institute of Myology’s Service of Neuro-Myology. I hold a University Degree in Nursing and I have worked for a number … [Read more]
Sport activity improves mental and social well-being in NMD patients
Neuromuscular diseases (NMD) are characterized by their great diversity, both clinically and genetically. They affect children as well as adults and have in common the impairment of one or more elements making up the motor unit. The vast majority are linked to genetic defects, especially in the pediatric population, but it can have another origin, … [Read more]
Advances in Steinert disease
Steinert disease or myotonic dystrophy type 1 is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and difficult to relax after contraction (myotonia). It also affects other organs (heart and respiratory systems, digestive system, hormone secretions and nervous system): it is a so-called multi- system disease. This document presents news … [Read more]
Advances in myotonic dystrophy type 2
Myotonic dystrophy type 2 or PROMM (Proximal Myotonic Myopathy) is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and difficult to relax after contraction (myotonia). It can also affect other organs (heart, eyes, etc.). It manifests in adulthood and progresses slowly. This disease has many similarities with another, much … [Read more]
