Myology research highlights
RSS feedThe 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]
Ultrasound nerve imaging may be useful in CMT
Due to technological advances in ultrasound equipment, it is now possible to visualize nerves along their entire length. An international consortium of German, Algerian and Egyptian researchers compiled data from 6,061 such examinations in the context of patients with Charcot-Marie-Tooth disease (CMT): A literature review and meta-analysis of the collected cases were performed using data … [Read more]
Late-onset sporadic nemaline myopathy: of the importance of α-actinin immunostaining and of the efficacy of corticosteroids combined with an immunosuppressant
A Chinese retrospective study of 17 individuals with sporadic late-onset nemaline myopathy (SLONM), including four with monoclonal gammopathy of undetermined significance (MGUS), shows positive muscle biopsy immunostaining for anti-α-actinin antibodies in all cases. The first signs appeared at a median age of 54 years. Most had asymmetric proximal limb muscle involvement (71%) and neck extensors … [Read more]
A first case, adult and without rhabdomylolysis, of myopathy linked to the MLIP gene
The involvement of the MLIP gene in the occurrence of acute episodes of rhabdomyolysis associated with exertional myalgia from early childhood was first published in October 2021. This gene encodes the Muscular LMNA-interacting protein (MLIP), which interacts with lamins A/C and is thought to play a role in the regulation of transcriptional activators during cardiac stress. … [Read more]
