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1655 news items
Research
Early lessons from newborn mass screening for DMD in Taiwan
On 19/08/2022
The Taiwanese health authorities have launched a newborn screening program for Duchenne muscular dystrophy (DMD) starting with the region of Taipei. Approximately 50,000 newborns have…
Research
Investigate and manage pain in DMD at any age
On 18/08/2022
A South Korean team interviewed 148 boys with Duchenne muscular dystrophy with an average age of 14.5 years: 86 boys had lost walking: 35 were…
Research
The INCEPTUS study confirms the frequency of liver damage in X-linked myotubular myopathy
On 18/08/2022
The international INCEPTUS study, a natural history study prior to the ASPIRO gene therapy trial to which I-Motion (Hôpital Armand trousseau, Paris) contributed, involved 34…
Research
Central core disease: facial involvement makes the difference
On 17/08/2022
A Brazilian team analyzed the clinical presentation and RYR1 gene variants found by next-generation sequencing (NGS) of 27 individuals with central core myopathy, aged one…
Research
Ultrasound nerve imaging may be useful in CMT
On 17/08/2022
Due to technological advances in ultrasound equipment, it is now possible to visualize nerves along their entire length. An international consortium of German, Algerian and…
Research
Late-onset sporadic nemaline myopathy: of the importance of α-actinin immunostaining and of the efficacy of corticosteroids combined with an immunosuppressant
On 16/08/2022
A Chinese retrospective study of 17 individuals with sporadic late-onset nemaline myopathy (SLONM), including four with monoclonal gammopathy of undetermined significance (MGUS), shows positive muscle…
Research
A first case, adult and without rhabdomylolysis, of myopathy linked to the MLIP gene
On 16/08/2022
The involvement of the MLIP gene in the occurrence of acute episodes of rhabdomyolysis associated with exertional myalgia from early childhood was first published in…
Research
Different gut microbiota in dermatomyositis, especially with associated lung disease
On 12/08/2022
A team from the University of California at Los Angeles (UCLA) publishes the results of a comparative study of the gut microbiota of 36 dermatomyositis…
Research
A first positive assessment of intrathecal injections of nusinersen in children
On 12/08/2022
Nusinersen (Spinraza®) is one of the innovative oligonucleotide-based therapies administered to patients with spinal muscular atrophy (SMA). The need to inject it intrathecally is sometimes…
Research
Feedback from gene therapy in children with SMA over 8.5 kg
On 10/08/2022
The therapeutic trials leading to the approval of the onasemnogene abeparvovec (Zolgensma) were conducted in children with SMA weighing less than 8.5 kg. In the…
Research
A more effective response to Zolgensma® in patients with poor response to Spinraza®?
On 09/08/2022
An Italian real-life study conducted over 3 months in nine children with type I proximal spinal muscular atrophy (SMA) (1.7-48 months) on Zolgensma®, seven of…
Research
A functional scale to assess facial muscle involvement in FSH
On 09/08/2022
Facial muscle involvement is part of the classic description of facioscapulohumeral myopathy (FSH), including deficits of the orbicularis of the lips and eyes. Dutch researchers…
Research
A South Korean natural history study of Kennedy syndrome
On 05/08/2022
Kennedy syndrome or bulbospinal muscular atrophy affects mainly an adult population. Clinicians in South Korea have collected clinical and genetic data from 157 patients with…
Research
A rare but formidable complication of gene therapy in SMA
On 04/08/2022
Gene therapy for spinal muscular atrophy (SMA) has involved some 40 French infants to date. The onesamnogene abeparvovec (Zolgensma®) was administered in a single intravenous…
Research
Longitudinal cardio-MRI follow-up shows early myocardial damage in DMD
On 03/08/2022
Duchenne muscular dystrophy (DMD) is invariably accompanied by cardiomyopathy, the most frequent cause of death. An American team looked at the kinetics of cardiac involvement…
Research
Results of the SPR1NT trial: Zolgensma under study in presymptomatic
On 02/08/2022
This trial was conducted worldwide (but not in France) in 14 infants with presymptomatic SMN1-related proximal spinal muscular atrophy (SMA) with two copies of SMN2…
Research
The predisposition to myasthenia gravis is becoming better known
On 01/08/2022
Myasthenia gravis is a multifactorial disease that is thought to be caused by environmental factors in people with a genetic predisposition. A new international study…
Research
A majority of patients with neuromuscular disease are comfortable with telemedicine, but half prefer face-to-face consultations
On 01/08/2022
A telephone survey of 520 patients with neuromuscular disease (including 42.9% myasthenia gravis, 21.5% neuropathy, 18.1% myopathy, 8.3% motor neuron disease) followed at 10 North…
Research
First clinical and genetic description of a large cohort of patients with sarcoglycanopathy in India
On 29/07/2022
A retrospective study included 68 Indian patients (37 males and 31 females) with SGCA-related LGMD R3 (22), SGCB-related LGMD R4 (34), SGCG-related LGMD R5 (7)…
Research
DM2: targeting mechanisms disrupted by marketed molecules
On 29/07/2022
Two articles published in the last 12 months present new therapeutic avenues in myotonic dystrophy type 2 (DM2) with encouraging results in Drosophila models of…