Myology research highlights
RSS feedImproving assessment of the risk of DMD and BMD recurrence in the case of a de novo mutation
One third of the variants involved in Duchenne and Becker muscular dystrophies (BDMD) are de novo mutations. Knowing that these diseases are predisposed to germline mosaicism, the team from the Department of Genomic Medicine for System and Organ Diseases at Hôpital Cochin (Paris) found, in their unpublished retrospective series of 332 BDMD families, a germline … [Read more]
Cognitive problems are common in children with SMA, even if they are treated early on
German clinicians looked at the frequency of cognitive impairment in a cohort of children with SMN1-related spinal muscular atrophy (SMA) type 1 who had received early treatment with one of the three innovative therapies available on the market: 20 children were included in the study, 19 of whom were symptomatic (up to 3 copies of … [Read more]
An overview of DYNC1H1-related dyneinopathies
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. This gene encodes the heavy chain of plasma dynein 1, which plays a central role in retrograde transport along neuronal axons. In addition to motor neuron damage, patients presented with … [Read more]
The neuropsychological profile may also be modulated by the environment in DM1
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 IQs, one has more difficulty with emotional functioning, while the second has difficulty with social cognition; the latter had grey matter atrophy in an additional area of the brain compared … [Read more]
Data on quality of life in hypokalaemic periodic paralysis
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 of life were muscle weakness and fatigue. The older the patients, the poorer their quality of life scores. These symptoms are thought to be due mainly to permanent and progressive … [Read more]
SMA: chronic pain is common, particularly in adolescence
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 type I SMA, 59 type II, 51 type III and three of undetermined type because they were treated in the asymptomatic phase; 48% of the 67 adults, 62% of the … [Read more]
3,4-diaminopyridine may improve VAMP1-related congenital myasthenic syndromes
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 involvement and delayed motor acquisition have been described. Five new cases were reported in May 2024. Their description confirms the severity of the bulbar and motor impairment; all had scoliosis … [Read more]
Properties of the functional scale used in inclusion myositis
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 (IBM): to this end, the investigators retrospectively analysed the IBMFRS data accumulated during a multicentre clinical trial involving 150 patients with IBM, over a total period of 20 months, all … [Read more]
GNE myopathy: the absence of sialic acid in adulthood is not pathological in mice
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 show no signs of functional or structural muscle damage. Despite a severe reduction in the amount of sialic acid in the liver and muscle, they showed no abnormal behaviour or … [Read more]
European recommendations for late-onset Pompe disease summarised by the three-S rule
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 this treatment, its potential benefits and its real-life results were taken into account, as was the arrival of alternative (and/or new-generation) therapies. Three topics in particular were addressed by the … [Read more]
