Myology research highlights
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]
Can a simple blood count predict a myasthenic crisis?
According to a retrospective study conducted in Germany on 15 patients who had suffered a total of 21 myasthenic attacks and 43 patients who had not suffered any: an increase in basophils, neutrophils, total leucocytes and platelets was associated with a higher risk of myasthenic attacks, conversely, other haemogram parameters, CRP levels, sex and type … [Read more]
A large Iranian cohort of patients with COL-Q deficiency
Iranian clinicians report on a large cohort of 26 patients followed for an average of nine years and in whom the diagnosis of congenital myasthenic syndrome (CMS) with COLQ deficiency has been formally proven: the clinical, electrophysiological and molecular data of these patients were compiled, signs of onset usually consisted of ptosis, ophthalmoparesis and limb-girdle … [Read more]
Mutations in the SRPK3 gene only lead to skeletal muscle myopathy in combination with a mutation in the TTN gene
An international collaboration describes a cohort of 33 patients with slowly progressive myopathy, beginning in childhood and associated with co-segregation of SRPK3 and TTN variants. Axial and proximal muscle involvement affected the lower limbs more than the upper limbs. Respiratory muscle involvement was present in 14 of the patients; three had dilated cardiomyopathy probably due … [Read more]
Dermatomyositis, polymyositis and the inner ear
In Taiwan, an analysis of reimbursement data for 1,622 patients suffering from polymyositis or dermatomyositis and 8,109 people free of these diseases showed : a significant difference in the prevalence of tinnitus (16.1% versus 12.7%) and sensorineural hearing loss (9.2% versus 6.8%) in the myositis group, there was also a significant difference in the prevalence … [Read more]
Whole genome sequencing facilitates genetic diagnosis in CMT
With more than 130 genes involved, the genetic diagnosis of Charcot-Marie-Tooth (CMT) disease and associated neuropathies is a complex process which is not always conclusive. According to data from a cohort of 1,515 patients monitored by Professor Mary Reilly’s team in England : 77% of patients were able to receive a genetic diagnosis, although this … [Read more]
Two new genes in Charcot-Marie-Tooth disease
The gene for a seventh aminoacyl-tRNA synthetase has just been implicated in axonal dominant Charcot-Marie-Tooth disease (CMT) thanks to whole exome sequencing of three unrelated individuals: this is asparaginyl-tRNA synthetase (NARS1); the functional study showed that it is a loss-of-function mutation. A homozygous variant affecting the splice site of the NDUFS6 gene, which encodes a … [Read more]
Adult mitochondrial myopathy: very slowly progressive muscular damage of the limbs, often associated with multisystem damage and high mortality
A retrospective study at the Mayo Clinic in Rochester (Minnesota, USA) was based on 94 cases of mitochondrial myopathy diagnosed in adulthood and followed up between 2005 and 2021: the mean time between the first signs and diagnosis was 11 years and the median age at diagnosis was 48 years (range 32 to 63 years); … [Read more]
A new tool for assessing swallowing disorders in young children with SMA
German clinicians were interested in the swallowing disorders present in young patients with SMN1-related proximal spinal muscular atrophy (SMA), treated or untreated, and relatively unexplored until now: the target population consisted of young children with SMA aged between 0 and 24 months, after using the main existing tools and interviewing a panel of experts, the … [Read more]
