Blog Archives
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. The authors describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with … [Read more]
Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading
The objective of this study was to determine interrater variability in diagnosing individual muscle biopsy abnormalities and diagnosis. The authors developed a scoring tool to analyze consensus in muscle biopsy reading of an ad hoc workgroup of international experts. Twenty-four samples from patients with suspected idiopathic inflammatory myopathy (IIM) were randomly selected, providing sections that … [Read more]
Routine cerebrospinal fluid cytology reveals unique inclusions in macrophages during treatment with nusinersen
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by degeneration of spinal motor neurons leading to muscular weakness. The antisense oligonucleotide nusinersen was approved for the treatment of patients with 5q-associated SMA. Treatment must be repeatedly administered intrathecally by lumbar puncture. So far, data regarding cerebrospinal fluid (CSF) parameters are sparse and … [Read more]
Ataluren use in patients with nonsense mutation DMD: patient demographics and characteristics from the STRIDE Registry
Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (DMD) in clinical practice (NCT02369731). Here, the authors describe the initial demographic characteristics of the registry population. Patients will be followed up from enrollment for ≥5 … [Read more]
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene
Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally complex genes. Targeting compensatory modifier genes could be beneficial to improve disease phenotypes. Here the authors report a mutation-independent strategy to upregulate the expression of a disease-modifying gene associated with congenital muscular dystrophy type 1A (MDC1A) using the CRISPR activation system in mice. MDC1A … [Read more]
Analysis of the functional capacity outcome measures for DM1
Defining clinically relevant outcome measures for myotonic dystrophy type 1 (DM1) that can be valid and feasible for different phenotypes has proven problematic. The Outcome Measures for Myotonic Dystrophy (OMMYD) group proposed a battery of functional outcomes: 6-minute walk test, 30 seconds sit and stand test, timed 10 m walk test, timed 10 m walk/run … [Read more]
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, OPDM and an overlapping disease
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in … [Read more]
I-Motion is recruiting a Physiotherapist
Since its creation in 1996, the goal of the Institute of Myology is to promote the existence and recognition of myology by being a center of expertise dedicated to muscle. Its activity comes from the diagnosis, management and follow-up of neuromuscular patients, but also includes an applied and fundamental clinical research platform. Within the Institute … [Read more]
Longitudinal study of upper extremity reachable workspace in FSHD
Facioscapulohumeral Dystrophy (FSHD) results in slowly progressive strength impairment, especially the upper extremities. Recent discoveries regarding pathophysiology have led to exciting novel therapeutic strategies. To further facilitate drug development, improved FSHD outcome measures that are functionally-relevant and sensitive to longitudinal change will be critical. Recently, a motion sensor (Kinect)-based upper extremity outcome called ‘reachable workspace’ … [Read more]
Reproductive pattern in women with IIM – a population-based study
The objective of this study was to examine the reproductive pattern of women with idiopathic inflammatory myopathy (IIM) compared to the general population. Population-based, nationwide registers were used to identify offspring of women with IIM and comparators. Women with IIM in general had similar reproductive pattern as the comparators whereas those diagnosed between 26 and … [Read more]
