Myology research highlights
RSS feedA new technology to identify pathological variants of the titin gene
Titinopathies are neuromuscular diseases recently described. Their wide clinical heterogeneity combined with the very large size of the TTN gene is at the origin of many diagnostic issues. Members of the Titine France Consortium report an important technological advance in the field: high-throughput sequencing, known as third generation sequencing, can now read very long DNA … [Read more]
Start of saracatinib trial in myositis ossificans
Since the discovery of the causative gene (ACVR1) in myositis ossificans or fibrodysplasia ossificans progressiva (FOP), several therapeutic avenues have been explored, including the potent ALK2/ACVR1 kinase inhibitor saracatinib: this drug has the advantage of having been developed for the treatment of ovarian cancers with a good safety profile; the current trial, codenamed STOPFOP, is … [Read more]
The phenotypic spectrum of an ultra-rare form of muscle glycogenosis is widening
Glycogen synthase deficiency (also known as GSD type 0B) is an ultra-rare form of muscle glycogenosis first described in 2007 and linked to mutations in the GYS1 gene. An Italian team reports the clinical and genetic data of two new cases from unrelated families: unlike the original cases, the picture included muscle deficit, myalgic syndrome … [Read more]
The first Japanese case of myopathy linked to the myoglobin gene
Myoglobinopathy gene (MB gene) is an autosomal dominant, ultra-rare neuromuscular disease characterized by microscopically visible sarcoplasmic inclusions. The new and first Japanese case reported here highlights the following points: the patient, 71 years old, presented signs similar to those already described in this disease (proximal and axial muscle deficit, respiratory insufficiency); to which were added … [Read more]
Three years of newborn screening for SMA in New York
A study of newborn screening in New York City was conducted between October 2018, when the state added SMA to its panel of diseases routinely screened at birth, and September 2021. During those three years: 34 newborns were diagnosed out of 650,000 tested (about a 1-in-19,000 frequency) at 9 New York State centers, including 1 … [Read more]
RYR1 mutations are also involved in a mild form of tubular aggregate myopathy
An Italian team reports the observations of two unrelated men, aged 30 and 39 years, complaining of muscle stiffness after sustained physical activity or exposure to cold accompanied by elevated CPK levels. Muscle biopsy revealed the presence of submembranous tubular aggregates in type 2 fibers, without any other histological abnormality, especially of the core type. … [Read more]
Early lessons from newborn mass screening for DMD in Taiwan
The Taiwanese health authorities have launched a newborn screening program for Duchenne muscular dystrophy (DMD) starting with the region of Taipei. Approximately 50,000 newborns have been tested since February 2021 using a CPK assay performed on blotters in the first days of life. In case of a positive result, a NGS (next-generation sequencing) study was … [Read more]
Investigate and manage pain in DMD at any age
A South Korean team interviewed 148 boys with Duchenne muscular dystrophy with an average age of 14.5 years: 86 boys had lost walking: 35 were younger than 15 years (recent non-ambulatory) and 51 were 15 years or older (“old” non-ambulatory); 62 were ambulatory; 45% of the participants had moderate pain in the previous 4 weeks, … [Read more]
The INCEPTUS study confirms the frequency of liver damage in X-linked myotubular myopathy
The international INCEPTUS study, a natural history study prior to the ASPIRO gene therapy trial to which I-Motion (Hôpital Armand trousseau, Paris) contributed, involved 34 children under 4 years of age with X-linked myotubular myopathy on respiratory support. During a median follow-up of 13 months (from 5 months to more than 2.5 years), there were … [Read more]
Central core disease: facial involvement makes the difference
A Brazilian team analyzed the clinical presentation and RYR1 gene variants found by next-generation sequencing (NGS) of 27 individuals with central core myopathy, aged one to 52 years and from 19 unrelated families. Eleven patients from four families had an autosomal dominant form, three patients from two families had an autosomal recessive form, and 13 … [Read more]
