Neuromuscular disorders (in general)
RSS feedIdentification of numerous variants on genes involved in mitochondrial diseases in peripheral neuropathies without genetic diagnosis
British researchers have re-examined the genomic analyses of 2,087 people registered on the Genome-Phenome Analysis Platform (GPAP) with possible peripheral neuropathy. They looked for variants in 183 genes involved in mitochondrial diseases. They identified 1,379 rare variants, mainly in nuclear genes. Of these, 44 variants were already recognized as pathogenic. The genes most frequently affected … [Read more]
SNUPN joins the list of genes involved in muscular dystrophies
Two independent international studies, published and also presented at Myology 2024, have reported the involvement of the SNUPN gene in a new form of muscular dystrophy. Like LAMA2, SNUPN is thought to be responsible for a congenital form (CMD) presenting before the age of two, and a later form which could be the 29th recessive … [Read more]
Update of recommendations on musculoskeletal rehabilitation in neuromuscular diseases
Initially drawn up in 2001, the recommendations for good practice on rehabilitation of the musculoskeletal system in neuromuscular diseases have been updated in a therapeutic context which has changed considerably over the last two decades with : the arrival of new biotherapies, the introduction of graft-free spinal instrumentation and new technical aids, and exercise training, … [Read more]
A Canadian survey highlights the very varied levels of knowledge of many adult neurologists regarding corticosteroid therapy
Adult neurologists specialising in neuromuscular diseases often prescribe long-term corticosteroids, particularly for autoimmune diseases (myositis, myasthenia gravis, etc.): an online survey of 99 Canadian neurologists practising in their country of origin or elsewhere was carried out, analysis of the responses from the 71 actual participants revealed shortcomings both in the screening of patients before starting … [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]
Initial results of the “Adult polyglucosan disease” register
The Columbia University team publishes data collected since 2014 in the Columbia University APBD Registry (CAP ) and filled in by patients with adult polyglucosan disease: out of 126 respondents, 96 met the inclusion criteria: being 18 years of age or older and presenting with a progressive triad of peripheral neuropathy, spasticity and neurologic bladder … [Read more]
A probable founder effect in a hereditary neuropathy with cyclic vomiting
French clinicians and biologists report the observations of three families of North African origin who were diagnosed with deficiency of SMVT, a sodium-dependent multi-vitamin transporter: the clinical picture was one of severe axon-demyelinating neuropathy, appearing early (in childhood) and often complicated by optic atrophy, and recurrent episodes of incoercible vomiting, suggesting dysautonomia, High-throughput sequencing in … [Read more]
GDF5, a “rejuvenating” treatment for age-related neuromuscular deficiency in mice
A study conducted by the MOOVE* research team headed by France Pietri-Rouxel, in collaboration with several teams from the Institute and Sorbonne University, has just been published in Brain**. It focuses on the effects of chronic administration of a factor, GDF5, on age-related neuromuscular deficiency (sarcopenia) in mice. Sarcopenia is an age-related disease involving excessive … [Read more]
An ultra-rare myopathy, but important to recognise because it can be treated
Clinicians in London report the observation of a 27-year-old patient diagnosed with arginine-glycine amidino-transferase (AGAT) deficiency myopathy: the clinical picture combined myopathy and cognitive difficulties dating back to childhood, in a patient with no family history but with known parental consanguinity; She was short in stature and also had ptosis and a discrete facial dysmorphia, … [Read more]
Natural history of X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy (XMEA) is a little-known disease linked to the VMA21 gene. It leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. The aim of this retrospective study, conducted by French teams including researchers and clinicians from the Institut de Myologie, was to define the clinical, radiological and natural … [Read more]
