Blog Archives
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]
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]
