Blog Archives
A study carried out in France compared the withdrawal arrangements of corticosteroids in myasthenia gravis
Myasthenia gravis is a neuromuscular immune mediated disease particularly common in adulthood. It is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. it results in fluctuating paralysis with a strong ocular and bulbar tropism. MG treatment is both symptomatic, with acetylcholine esterase … [Read more]
Cohort Temporary Authorisation for Use for risdiplam in SMA type I, II and III
The ANSM (French National Agency for Medicines and Health Products Safety) has just granted risdiplam (Evrysdi) Cohort Temporary Authorisation for Use for “patients aged 2 months and over with a clinical diagnosis of SMA type I, II or III in case of treatment failure, intolerance or inability to administer treatment with respect to available alternative … [Read more]
Zolgensma®: significant uncommon adverse events to be aware of and monitor
Zolgensma® (onasemnogene abeparvovec) is the first gene therapy product to obtain marketing authorization in 2019 in a neuromuscular disease, namely SMA. While the beneficial effects of Zolgensma® on motor development are rapid and lasting, serious side effects affecting other organs or tissues have recently been published. Analyzes of data from two series totalling over 300 … [Read more]
Eteplirsen (EXONDYS51), an antisense oligonucleotide authorized in the United States, appears to be able to maintain walking in patients treated for 4 years
Eteplirsen (Exondys51) is an antisense oligonucleotide targeting exon 51 skipping in the DMD gene. Developed by the Sarepta Therapeutics and conditionally authorized on the US market, eteplirsen enables the production of dystrophin in muscle. Long-term walking preservation A publication from the Journal of Neuromuscular Diseases describes new results from one of the very first trials … [Read more]
Muscular dystrophies with collagen-VI deficiency: predictive indices of the long-term phenotype?
Collagen VI myopathies (or collagenopathies VI) represent a group of muscular dystrophies whose clinical expression ranges from severe and early forms of infancy (congenital muscular dystrophy of Ullrich) to relatively benign forms ( Bethlem myopathy, LGMD R22 or D5), passing through many intermediate forms. The collagen VI deficiency, a key protein of the extracellular matrix, … [Read more]
Eteplirsen, an antisense oligonucleotide authorised in the United States, seems to preserve ability to walk in patients treated over a 4-year period
Eteplirsen (Exondys 51) is an antisense oligonucleotide that targets the skipping of exon 51 in the DMD gene. Eteplirsen was developed by Sarepta Therapeutics and is conditionally authorised in the United States; it allows dystrophin to be produced in the muscle. Ability to walk preserved over the long-term A published article from the Journal … [Read more]
SRP-4045 is the 3rd antisense oligonucleotide to obtain conditional marketing authorization in the United States
Sarepta Therapeutics has just announced having obtained conditional marketing authorization (MA) in the United States for its antisense oligonucleotide SRP-4045 (casimersen – AMONDYS 45) in Duchenne muscular dystrophy (DMD). SRP-4045 targets skipping exon 45 of the DMD gene, an abnormality that affects 8% of boys with DMD. A production of dystrophin but a clinical … [Read more]
Facial recognition for an early diagnosis of Andersen-Tawil syndrome
Andersen-Tawil syndrome (or ATS) is a rare muscle channelopathy (1: 500,000) inherited in an autosomal dominant mode. Linked in the vast majority of cases to mutations in the gene coding for the Kir2.1 potassium channel, this syndrome associates to varying degrees hyperkalemic paralysis, arrhythmic heart disease and dysmorphic syndrome. Paralysis results in episodes of muscle … [Read more]
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]
