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1385 news items
Research
Standards now available for muscle fibre size and type during growth
On 13/02/2023
The evolution of muscle fibre morphometry during growth is poorly understood. French researchers and engineers involving scientists from the Institute of Myology have used a…
Research
How to reconcile vaccination schedule and gene therapy in infants with SMA?
On 13/02/2023
Gene therapy has become a treatment option for many infants with severe forms of spinal muscular atrophy (SMA) and tomorrow for those diagnosed at a…
Research
HDAC6 inhibition improves the phenotype of mdx mice
On 10/02/2023
Laurent Schaeffer’s team in Lyon, in collaboration with a Canadian team in Ottawa, has shown that inhibition of cytoplasmic histone deacetylase 6 (HDAC6) by administration…
Research
The induction of self-tolerance is back on the agenda in myasthenia gravis
On 09/02/2023
According to preclinical work by Spanish researchers, carried out with the help of Rozen Le Panse’s team at the Institute of Myology : intraperitoneal injection…
Research
First enzyme replacement therapy started in utero shows promise in Pompe disease
On 09/02/2023
A foetus with Pompe’s disease received ultrasound monitored alglucosidase alfa every 2 weeks from 24 to 34 weeks of pregnancy (6 injections). This baby girl…
Research
Cell therapy in myasthenia gravis: one PNDS and three cases
On 06/02/2023
Published in October 2022, the French National Diagnostic and Care Protocol (PNDS) for haematopoietic stem cell transplantation in autoimmune diseases includes myasthenia among the indications…
Research
Beware of cardiac complications in a-7 integrin deficiency
On 06/02/2023
The first mutations in the gene coding for integrin a-7 were described in a very few patients with congenital muscular dystrophy (CMD). An international consortium…
Research
Artificial intelligence for the interpretation of muscle biopsy images
On 02/02/2023
Quantifying the number and size of muscle fibres remains a complex, repetitive and time-consuming task. It is hampered, in particular, by the low resolution of…
Research
A metabolic myopathy with a frequently poor prognosis reported in Japan
On 02/02/2023
Multiple acyl-CoA dehydrogenase (MADD) deficiency is responsible for a metabolic myopathy linked to three distinct genes: ETFA, ETFB and ETFDH. Japanese researchers compiled clinical and…
Research
A 5-year natural history to define relevant long-term follow-up parameters for GNE myopathy
On 01/02/2023
Manual testing (especially of the shoulder girdle muscles), gross motor function measurement (GMFM scale), thumb-index clamp, vital capacity, DEXA lean body mass and the physical…
Research
Late-onset DM1: cardiac conduction disorders as frequent as in the classical form
On 31/01/2023
A Dutch team compared the muscular, respiratory and cardiac phenotype of 275 people with classic myotonic dystrophy type 1 (DM1) (median age of onset: 25…
Research
Distal hereditary motor neuropathy: identification of the COQ7 gene and coenzyme Q10 supplementation
On 26/01/2023
Until now, the COQ7 gene has only been implicated in very severe coenzyme Q10 deficiencies, for which coenzyme Q10 supplementation has led to stabilisation of…
Research
Paediatric forms of FLNC cardiomyopathy are rare but important to know
On 25/01/2023
Abnormalities of the FLNC gene encoding filamin C have been described in isolated myofibrillar myopathies or cardiomyopathies. Italian researchers conducted a retrospective study of paediatric…
Research
Feedback on innovative therapies for myasthenia gravis
On 25/01/2023
The last five years have seen an unparalleled development of therapies targeting severe and/or refractory forms of myasthenia gravis (MG). US clinicians shared their experiences…
Research
Bacopa-containing food supplement involved in autoimmune necrotizing myopathy
On 25/01/2023
A team from Stanford (USA) has published the case of a 21 year old man with no notable history or long-term treatment: he presented with…
Research
A survey of genetic counselling in neurogenetic diseases, including DM1
On 24/01/2023
A French team conducted a study of 562 patients with autosomal dominant neurological diseases (Huntington’s disease, spinocerebellar ataxias, DM1, etc.). The vast majority of families…
Research
Electrophysiological studies are useful in differentiating CMS
On 24/01/2023
Researchers from the Institute of Myology analysed electroneuromyography data from 120 patients with congenital myasthenic syndromes (CMS) and compared them with the results of genetic…
Research
Evolution of scoliosis in SMA type II in absence of modifying treatment
On 24/01/2023
To address the lack of data on the course of scoliosis without treatment that could be used as a benchmark for clinical trials or modifying…
Research
Quantitative muscle imaging enables early detection of degenerative lesions in calpainopathies
On 23/01/2023
German researchers compared quantitative magnetic resonance imaging (MRI) data of a set of muscles from 19 patients with calpainopathy and 19 healthy subjects. These data…
Research
Motor plate analysis relevant to the diagnosis of seronegative myasthenia
On 23/01/2023
A Japanese team evaluated the value of studying the motor plate in people who were negative for anti-RACh and anti-MuSK antibodies. Twenty people with symptoms…