Blog Archives
Compensation for the consequences of motor deficit in the upper limbs: an Italian study compares two commercialized articulated arms
Several neuromuscular diseases lead to motor deficit in the upper limbs at one point or another in their development. It is particularly true in Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). The phenomenon is becoming even more significant due to these two patient populations aging linked to the improvement in care. The involvement … [Read more]
DM1: systematic neonatal genetic screening reveals a five-times greater prevalence
Steinert’s disease (or DM1, myotonic dystrophy type 1) is one of the most common neuromuscular diseases in adults. Its clinical manifestations reflect the involvement of several organs and tissues: the muscle, heart, crystalline lens, endocrine glands, etc. Heart complications make this a very serious condition, with a significant risk of sudden death without prophylactic treatment. … [Read more]
New positive results for nusinersen with EMBRACE trial
Nusinersen (or Spinraza®) was the first drug to obtain marketing authorization for SMA. It is largely based on the positive results obtained in the ENDEAR (in infants with ADS aged up to 7 months and with two copies of SMN2) and CHERISH trials (in children with ADS aged 2 to 12 years ). Long-term positive … [Read more]
COVID-19 and myasthenia gravis: the French Co-My-Covid study delivers some fairly reassuring first results
Myasthenia gravis is a disease of the neuromuscular junction, resulting in excessive muscle fatigue on exertion. Treatment can involve corticosteroids and/or immunosuppressants, medicines that are theoretically risky in the context of the COVID-19 pandemic. Additionally, there is a risk of a severe bout of the disease with respiratory involvement and bulbar weakness (myasthenic crisis) in the event … [Read more]
Although rare, border forms between CIDP and CMT also exist in children
Hereditary sensory-motor neuropathies (or CMT for Charcot-Marie-Tooth disease) are among the most frequent neuromuscular diseases of all ages, either male or female. They are clinically and genetically very heterogeneous even if they have in common a motor deficit predominant on the extremities (feet, hands), sensory disorders of varying intensity and electrophysiological disturbances (axonal or demyelinating … [Read more]
An ancillary imaging study confirms the potentially deleterious role of intensive sports practice in dysferlinopathies
Dysferlinopathies are hereditary muscular dystrophies resulting in motor deficits of a distal (Miyoshi myopathy) or proximal nature (LGMD R2-type Limb Girdle Muscular Dystrophy), or even a combination (proximo-distal deficit). These myopathies are due to mutations in the DYSF gene encoding dysferlin, a protein involved in membrane repair processes. Since the first disorders usually begin around … [Read more]
Frequent feeding difficulties in type II SMA and effective gastrostomy
SMA is characterized primarily by loss of muscle strength. Bulbar muscles and muscles involved in gastrointestinal transit are also affected, but they have not been as studied as skeletal muscles. Difficulties in eating (swallowing, chewing, weight gain or loss, etc.) have frequently been reported in type I SMA and sporadically in type III SMA. In … [Read more]
ERN EURO-NMD webinar, 11 March: Sabrina Sacconi (France) and Gabriele Siciliano (Italy)
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN Monday 11 March 2021 – 4:00 am (Paris time) Telemedicine in NMD: state of the art Prof Sabrina Sacconi (CHU Nice , France) and Prof Gabriele Siciliano (University Hospital Pisa, Italy ) You may register here: https://aim.zoom.us/webinar/register/WN_5LBXfwhxTVydKwnbjhc6Iw
Laure de Pontual winner of the 2020 Master Prize awarded by the SFM
Laure de Pontual was awarded the Masters 2020* prize by the French Myology Society (SFM). This prize was a reward for her excellent academic record, her work in the 2nd year of her Masters in the field of myology, and as an encouragement for her proposed thesis that she presented on 20 January 2020, during … [Read more]
Update on purely motor hereditary neuropathies: about two major Spanish and Chinese series
If there are large numbers of patients with hereditary sensory-motor neuropathies (or CMT for Charcot-Marie-Tooth disease), it is not the same for the « pure motor » forms, also known as of spinal CMT or Distal hereditary motor neuropathies (dHMN). These forms are autosomal recessively or dominantly inherited and are due to mutations in less than 20 … [Read more]
