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1385 news items
Research
CADM3: a gene coding a cell adhesion protein involved in a new form of axonal CMT
On 08/07/2021
Hereditary Charcot-Marie-Tooth disease (CMT) type sensorimotor neuropathies are clinically and genetically heterogeneous diseases. They are relatively common in the general population, and result in motor…
Research
Tamoxifen is well tolerated in DMD and has a modest impact on motor function and breathing: results of a phase 1, open-label clinical trial in Israel
On 07/07/2021
Tamoxifen is an anti-oestrogen used to treat certain forms of cancer, such as breast cancer. Its anti-inflammatory and anti-fibrotic properties have led research teams to…
Research
Hydrocephalus and SMA : an american study tends to show nusinersen is not involved
On 07/07/2021
SMA is a degenerative motor neuron disease causing paralysis of varying occurrence and intensity. It is classified into four types, type I, of early onset…
Research
CMT : when the NGS comes to both simplify and complicate things
On 07/07/2021
Charcot-Marie-Tooth (or CMT) type hereditary sensory-motor neuropathies are clinically and genetically heterogeneous pathologies affecting all ages and all sexes. Relatively frequent in the general population,…
Research
Towards a broadening of the phenotype spectrum of the NOTCH2NL gene mutation
On 07/07/2021
Oculopharyngodistal myopathy (OPDM) is a very rare form of myopathy with a late onset, the clinical phenotype of which shares certain traits with oculopharyngeal muscular…
Research
Strengthening exercise can be beneficial for DMD patients in the medium term
On 06/07/2021
Duchenne muscular dystrophy (DMD) is the most common myopathy in children. It results in a progressive muscle deficit predominantly at the root of the limbs…
Research
A study of genotype/phenotype discordance in the SMAs is very informative
On 06/07/2021
SMA is a degenerative disease of the lower motor neurons, responsible for paralysis of varying severity. A distinction is made between four types (I to…
Research
A new form of mixed neuromuscular disease identified using molecular biology
On 05/07/2021
The neuromuscular diseases consist of a group of pathologies that are heterogeneous, both clinically and aetiologically. The element they have in common is involvement of…
Research
Buprenorphine: a therapeutic alternative in paramyotonia congenita?
On 05/07/2021
The paramyotonia congenita belongs to non-dystrophic myotonic syndromes. It is characterized by myotonia which paradoxically worsens during exercise and which can, if necessary, be disabling,…
Research
An overview of non-invasive ventilation in children with NMD
On 02/07/2021
A significant number of neuromuscular diseases, foremost among them spinal muscular atrophy, Duchenne muscular dystrophy and certain congenital myopathies, are accompanied by restrictive respiratory disorders.…
Research
Domagrozumab (PF-06252616) is not more efficacious than FKRP-related LGMDR9
On 02/07/2021
While the anti-myostatin agents appear to be a tempting approach to restoring muscle in neuromuscular patients, of all the clinical trials in humans involving different…
Research
DM1 and non-invasive home ventilation: does compliance with treatment influence mortality?
On 02/07/2021
DM1 is a relatively common genetic disease inherited in an autosomal dominant mode. There are several types of DM1 depending on the age of onset:…
Research
Pompe disease: a meta-analysis confirms the benefits of enzyme therapy in late-onset forms, but with more impact on walking than on breathing or muscle strength
On 01/07/2021
Pompe disease (or Glycogen-storage disease type II) is a metabolic myopathy characterised by a deficiency of acid maltase or acid alpha-glucosidase, an enzyme that is…
Research
A new form of muscular dystrophy identified using high throughput sequencing
On 29/06/2021
There are still many cases of orphan hereditary neuromuscular diseases. This results in diagnostic error that is often harmful to the care of the patient…
Research
A minimum of two and a half hours of exercise per week would be beneficial in Myasthenia gravis
On 24/06/2021
Myasthenia gravis is a neuromuscular disease linked to the deleterious effects of autoantibodies directed against elements of the neuromuscular junction, mainly the acetylcholine receptor located…
Research
Significant association between nutritional status and respiratory status
On 24/06/2021
A close relationship between nutritional status and respiratory muscle function has been demonstrated by clinicians at Raymond Poincaré Hospital (Garches) in 117 adults with Duchenne…
Research
A case of autoimmune necrotizing myopathy possibly linked to Covid-19
On 17/06/2021
Autoimmune necrotizing inflammatory myopathy has a special place among autoimmune muscle diseases. Recently described, this entity is diagnosed on muscle biopsy with aspects more necrosis…
Research
SMA: A very useful compilation of medico-economic studies
On 14/06/2021
SMA has recently experienced a spectacular acceleration at the therapeutic level. Genetically determined, this neuromuscular disease causes paralysis related to the degeneration of peripheral motor…
Research
Completely and spontaneously reversible mitochondrial myopathy: an extremely rare case
On 11/06/2021
The literature has already reported a form of mitochondrial myopathy in the newborn, which has the particularity of being self-limiting. This improvement is related to…
Research
The attitudes and expectations of patients with SMA are changing with regard to innovative therapies
On 04/06/2021
SMA is currently experiencing a therapeutic revolution, with more and more new molecules on the market or about to be approved. This crippling neuromuscular disease…