Myology research highlights
RSS feedNovel non-neural dysfunctions and a wide phenotypic spectrum in spinal and bulbar muscular atrophy
In this study that aimed to conduct a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA), 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology. Creatine kinase levels were slightly to markedly … [Read more]
Identifying the underlying cause of autosomal recessive adolescent-onset distal myopathy
Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. In this study, four patients from two unrelated Korean families were evaluated with the aim of identifying the underlying cause of autosomal recessive adolescent-onset distal myopathy. To isolate the genetic cause, exome sequencing was performed. In vitro and in vivo … [Read more]
Expanding the clinical spectrum of hereditary fibrosing poikiloderma
Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, the authors identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. The aim of this study was to … [Read more]
Clinical, biochemical and molecular characteristics of 16 patients with AGAT deficiency
Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis. In this study, the authors performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition. A total of 16 patients from 8 families of 8 different ethnic … [Read more]
Intravenous immunoglobulin infusions are safe in the elderly
This retrospective study investigated the safety of intravenous immunoglobulin (IVIg) among consecutive elderly patients treated for neurological disorders. Correlation and relative risks were calculated for age, risk factors, IVIg course, daily dose, concentration, preparation, and duration of treatment. An infusion and monitoring protocol was applied. A total of 244 patients were reviewed including 62% aged … [Read more]
Halofuginone directly ameliorates the pathology of the dystrophic muscle
Halofuginone is a leading agent in preventing fibrosis and inflammation in various muscular dystrophies. Here, the authors hypothesized that in addition to these actions, halofuginone directly promotes the cell-cycle events of satellite cells in the mdx and dysf-/- mouse models of early-onset Duchenne muscular dystrophy and late-onset dysferlinopathy, respectively. In both models, addition of halofuginone … [Read more]
Antioxidant vitamins and minerals improves physical performance in FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease characterized by progressive weakness and atrophy of specific skeletal muscles. Despite major progress in the understanding of the genetic basis of FSHD, the exact mechanisms that lead to FSHD defects are not completely understood and no curative treatment is available. However, there is growing evidence that … [Read more]
Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)
The objective of this study was to describe the development and initial psychometric analysis of the UK English version of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT), a patient-reported outcome (PRO) scale designed to measure functional ability in patients with Duchenne muscular dystrophy (DMD). Item selection was made by neuromuscular specialists and a … [Read more]
Exon-skipping to rescue of γ-sarcoglycan deficiency
Exon skipping uses antisense oligonucleotides as a treatment for genetic diseases. The antisense oligonucleotides used for exon skipping are designed to bypass premature stop codons in the target RNA and restore reading frame disruption. Exon skipping is currently being tested in humans with dystrophin gene mutations who have Duchenne muscular dystrophy. For Duchenne muscular dystrophy, … [Read more]
Use of the sensor engineered glove test in Charcot-Marie-Tooth neuropathy
This study aimed to describe a new test to quantitatively evaluate hand function in patients affected by Charcot-Marie-Tooth neuropathy (CMT). The sensor engineered glove test (SEGT) was applied to CMT patients (N: 26) and compared to a cohort of healthy controls (HC, N: 26). CMT patients were further divided into subjects with clinically normal (group … [Read more]
