Distal myopathies
RSS feedCommon in South India, GNE myopathy is associated with a founder effect
Clinicians in southern India, working with other international research teams, have compiled clinical, biological and genetic data from a very large cohort of adult patients previously diagnosed with GNE myopathy: 157 cases were included in this retrospective study, onset of symptoms averaged 26 years, with a delay in diagnosis of around six years, bilateral foot … [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]
Cardiac myosin inhibitor improves skeletal muscle contractility in Laing myopathy
Mavacamten is a small molecule inhibitor of myosin ATPase activity, used in hypertrophic cardiomyopathies, which targets myocardial hypercontractility by reducing the number of myosin heads in a disordered relaxed configuration in favor of a predominantly super-relaxed state as in normal muscle. Mouse models carrying the MYH7 mutation most common in distal Laing myopathy display muscle … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Pure distal myopathy involving the TDP-43 protein
A team of researchers and clinicians from Lyon report two unrelated families from the Ain region with late-onset distal myopathy with no signs likely to suggest associated motor neurone damage: A total of eight adult patients were studied, the disease being transmitted in an autosomal dominant fashion, with variable penetrance, The same missense variant of … [Read more]
A paediatric form of myopathy with VCP deficiency
An international consortium of researchers has reported, for the first time ever, several paediatric cases of myopathy with a deficiency of VCP, a vasoline-containing protein previously implicated in an autosomal dominant form of inclusion myopathy associated or not with Paget’s disease, motor neurone damage and frontotemporal dementia: 13 unrelated children were identified using the GeneMatcher … [Read more]
GNE myopathy and 6′-sialyllactose: mixed results
A South Korean team conducted a randomised trial of 6′-sialyllactose (6SL) versus placebo in GNE myopathy for almost two years (96 weeks) in 20 participants aged between 24 and 58 years with an average disease duration of 8.6±5.1 years: seven participants received 3g/d of 6SL (low dose), seven others 6g/d (high dose) and six others … [Read more]
A large series of patients with VCP gene-related myopathy studied with muscle imaging
An international consortium of clinicians coordinated by the Barcelona Neuromuscular Center has published the results of the analysis of nuclear magnetic resonance (MRI) images acquired in patients with VCP myopathy, a myopathy characterized by inclusion bodies and, inconstantly, Paget’s disease and/or fronto-temporal dementia : the images of 80 patients from the large international cohort of … [Read more]
Successful heart transplant in a child with congenital titinopathy
Swiss and British researchers report the case of a 13-year-old adolescent who required a heart transplant at the age of 5: he initially presented with neonatal hypotonia and respiratory disorders attributed to congenital myopathy unrelated to the MTM1 and RYR1 genes, Severe restrictive cardiomyopathy appeared from the age of 3, and led to the suggestion … [Read more]
An original case of congenital titinopathy in an adult
Researchers at the Créteil Neuromuscular Reference Centre (Henri-Mondor University Hospital) report the observation of a 36-year-old patient with a congenital onset of titinopathy: initial hypotonia and arthrogryposis developed into a highly retractile syndrome, muscle biopsy revealed increased internalisation of cell nuclei, variation in fibre size and predominance of type I fibres, genetic studies revealed the … [Read more]
