This update begins with a section on inflammatory myopathies covering inclusion body myositis in younger patients, the possibility of a pathogenic role for anti-cN1A antibodies, and a negative trial of arimoclomol in inclusion body myositis. The potential study of Janus kinase inhibitors in dermatomyositis is discussed as well as the possible role of targeted therapy for immune checkpoint inhibitor neuromuscular complications. Next, studies of disease-modifying or potential disease-modifying therapies for inherited myopathies are addressed including the encouraging follow-up study of gene replacement therapy for Duchenne muscular dystrophy (DMD), a negative trial of tamoxifen in DMD, and the complex topic of gene therapy for X-linked myotubular myopathy. A newly identified condition of muscular dystrophy from 3-hydroxy-3-methylglutaryl-CoA reductase mutations is addressed along with possible therapy. Other papers regarding GNE myopathy and long-term outcome of enzyme replacement therapy in infantile onset Pompe disease round out that section. Updates on the expanding spectra of anoctamin-5 myopathies, caveolinopathies, and congenital and mylagic myopathies from CACNA1S mutations follow as well as extensive discussion of Valosin containing protein proteinopathies, comprehensive management of Becker muscular dystrophy, and gastrointestinal complications in adult DMD.
Keyphrases
- muscular dystrophy
- duchenne muscular dystrophy
- replacement therapy
- interstitial lung disease
- end stage renal disease
- late onset
- smoking cessation
- clinical trial
- phase iii
- study protocol
- genome wide
- systemic sclerosis
- copy number
- ejection fraction
- newly diagnosed
- peritoneal dialysis
- phase ii
- risk factors
- systematic review
- prognostic factors
- human health
- squamous cell carcinoma
- disease activity
- estrogen receptor
- lymph node metastasis
- dna methylation
- breast cancer cells
- density functional theory
- stem cells
- cancer therapy
- climate change
- systemic lupus erythematosus
- molecular dynamics
- cell therapy
- patient reported