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1699 news items
Research
An overview of DYNC1H1-related dyneinopathies
On 28/08/2024
An international multicentre study reports on the clinical, molecular and imaging variety of 47 individuals from 43 families with a mutation in the DYNC1H1 gene.…
Research
The neuropsychological profile may also be modulated by the environment in DM1
On 28/08/2024
The neuropsychological assessment and brain MRI of two young women, monozygotic twins aged 29 with Steinert disease, showed slight differences: although they both have normal…
Research
Appropriate use of mexiletine in myotonic dystrophy: a consensus in France
On 27/08/2024
Experts in Steinert disease (DM1) have just produced recommendations concerning the use of mexiletine, a class I anti-arrhythmic agent which may improve the lack of…
Events
ERN EURO-NMD webinar, 3 Sept. : Nawel Lalout (NL) & Dagmar Wandrei (DE)
On 27/08/2024
The ERN EURO-NMD Registry Hub Project Tuesday 3 September 2024 – 16:00 Paris time Nawel Lalout (Radboudumc, NL) & Dagmar Wandrei (Medical Center – University…
Research
Data on quality of life in hypokalaemic periodic paralysis
On 27/08/2024
Forty-nine patients with hypokalaemic periodic paralysis linked to CACNA1S completed a quality of life questionnaire (INQoL). The symptoms with the greatest impact on their quality…
Research
SMA: chronic pain is common, particularly in adolescence
On 27/08/2024
Analysis of data from the Swiss neuromuscular disease register relating to 141 patients with SMN1-related proximal spinal muscular atrophy (SMA) shows that : 28 had…
Research
3,4-diaminopyridine may improve VAMP1-related congenital myasthenic syndromes
On 26/08/2024
In 2017, mutations in VAMP1 were implicated in a congenital presynaptic myasthenic syndrome. Since then, nine autosomal recessive cases with hypotonia, facial weakness, fatigability, bulbar…
Research
Properties of the functional scale used in inclusion myositis
On 26/08/2024
An Anglo-Saxon consortium studied the psychometric properties of the IBMFRS (Inclusion Body Myositis Functional Rating Scale), the reference scale used in patients with inclusion myositis…
Research
GNE myopathy: the absence of sialic acid in adulthood is not pathological in mice
On 26/08/2024
Israeli researchers have developed a mouse model of GNE myopathy, in which they induce GNE deficiency in the muscle and liver in adulthood. These mice…
Research
European recommendations for late-onset Pompe disease summarised by the three-S rule
On 26/08/2024
The European consortium for Pompe disease has updated its recommendations on enzyme replacement therapy (ERT) for this metabolic myopathy. The considerable hindsight now available on…
Research
Inherited motor neurone diseases are not limited to amyotrophic lateral sclerosis
On 16/08/2024
The team at the Centre de référence pour la sclérose latérale amyotrophique et pour les maladies neuromusculaires rares ‘AOC’ (Reference Centre for Amyotrophic Lateral Sclerosis…
Research
Primary administration of biphosphonates is less deleterious than expected, but remains to be monitored, particularly in DMD
On 14/08/2024
British clinicians have studied the side effects of the first venous administration of biphosphonates to combat osteoporosis: the records of 107 children who had received…
Research
Establishing functional trajectories is relevant to the design of therapeutic trials in DMD
On 12/08/2024
Faced with the difficulties and sometimes disappointed expectations of certain therapeutic trials in Duchenne muscular dystrophy (DMD), an international consortium of researchers sought to refine…
Research
Glucocorticoid receptors are locally useful in DMD
On 09/08/2024
American researchers sought to better understand the function and effects of long-term corticosteroid therapy in Duchenne muscular dystrophy (DMD): the gene encoding the glucocorticoid receptor…
Research
n myasthenia gravis, thymectomy for thymoma gives good neurological results after the age of 65
On 07/08/2024
A retrospective study carried out in two Italian expert centres in 66 patients aged over 65 with autoimmune myasthenia with thymoma, without anti-MuSK, showed :…
Research
PNDS recommendations on FHSD published internationally
On 07/08/2024
The National Diagnostic and Care Protocol (PNDS) for facioscapulohumeral muscular dystrophy (FSHD) was published in France at the very end of 2021. A recent article…
Research
A new combination of biomarkers to detect DMD female carriers
On 06/08/2024
Chinese researchers have studied ways of improving screening for women with Duchenne muscular dystrophy (DMD): apart from DMD gene genotyping, creatine phosphokinase (CPK) blood testing…
Research
Targeted expression of HMOX1 in satellite cells plays a protective role and reduces dystrophic lesions in mdx mice
On 02/08/2024
Heme oxygenase 1 (HO-1) is an enzyme with anti-inflammatory and antioxidant potential, encoded by the HMOX1 gene. Its level is high in the muscles of…
Research
CPK levels in children and adolescents vary according to age, sex, weight and whether they are taking contraception
On 01/08/2024
Between 2011 and 2016, 5,238 blood samples from 2,707 healthy children and adolescents, aged 0.14 months to 18 years, were collected as part of the…
Research
A French study on quality of life in non-dystrophic myotonia
On 31/07/2024
The responses of 47 patients with non-dystrophic myotonia to a French questionnaire on the impact of myotonia (French IMPACT survey 2022) showed that : the…