Myology research highlights
RSS feedCOX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency
Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel causative genes of COX deficiency with only striated muscle-specific symptoms. Whole exome sequencing was performed in 2 unrelated individuals who were diagnosed with congenital myopathy and presented COX deficiency in … [Read more]
Natural history of LGMD type R9 over 6 years: searching for trial endpoints
Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical trials in this slowly progressing condition. This study extends functional assessments and MRI muscle fat fraction measurements in an LGMD R9 cohort … [Read more]
Foot Function Index: a promising questionnaire for individuals with Charcot-Marie-Tooth disease type 1A
The objective of this study was to evaluate in a preliminary methodologic study, the Foot Function Index (FFI), a 3-subscale (pain, disability, and activity restriction) foot disability assessment questionnaire, in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). A monocentric exploratory cross-sectional study with 2 identical evaluations by the same physical medicine and rehabilitation physician at … [Read more]
Salbutamol tolerability and efficacy in patients with SMA type II
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in SMN1, which result in a degeneration of motor neurons in the spinal cord and brain stem. Even without a randomized placebo-controlled trial, salbutamol has been offered to patients with SMA in the neuromuscular clinics of most of hospitals … [Read more]
Mitochondrial dysfunction and role of harakiri in the pathogenesis of myositis
The etiology of myositis is unknown. Although attempts to identify viruses in myositis skeletal muscle have failed, several studies have identified the presence of a viral signature in myositis patients. Here the authors postulate that in individuals with susceptible genetic backgrounds, viral infection alters the epigenome to activate the pathological pathways leading to disease onset. … [Read more]
Dysregulation of circular RNAs in DM1
Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. CircRNAs are generated by “back-splicing”, which is the linking covalently of 3′- and 5′-ends of exons. Thus, circRNA levels might be deregulated in conditions associated with altered RNA-splicing. Significantly, growing evidence … [Read more]
Nusinersen in later-onset SMA: long-term results from the phase 1/2 studies
The objective of this study was to report results of intrathecal nusinersen in children with later-onset spinal muscular atrophy (SMA). Analyses included children from a phase 1b/2a study (ISIS-396443-CS2; NCT01703988) who first received nusinersen during that study and were eligible to continue treatment in the extension study (ISIS-396443-CS12; NCT02052791). The phase 1b/2a study was a … [Read more]
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy
The objective of this study was to define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three-generation families. Clinical evaluations as well as exome and panel sequencing analyses were performed in affected and nonaffected members of two families to identify genetic variants segregating with the phenotype. Histological … [Read more]
Observational study of clinical outcomes for testosterone treatment of pubertal delay in DMD
Adolescents with DMD treated with chronic high dose GC therapy typically have profound pubertal delay. Testosterone, the main circulating androgen in men, promotes virilisation and growth with associated accrual of fat-free muscle mass and bone mineral content. Testosterone therapy is routinely used to mimic the normal stages of pubertal development in patients with hypogonadotrophic hypogonadism, … [Read more]
Diaphragm sniff ultrasound: normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with NMD
In patients with neuromuscular disorders, assessment of respiratory function relies on forced vital capacity (FVC) measurements. Providing complementary respiratory outcomes may be useful for clinical trials. Diaphragm sniff ultrasound (US) is a noninvasive technique that can assess diaphragm function that may be affected in patients with neuromuscular disorders. A group of french researchers and clinicians, … [Read more]
