Metabolic myopathies are a group of genetic disorders specifically affecting glucose/glycogen, lipid, and mitochondrial metabolism. The main metabolic myopathies that are evaluated in this article are the mitochondrial myopathies, fatty…
Neuromuscular ultrasonography can be used both descriptively and quantitatively in the evaluation of patients with neuromuscular disorders. This article reviews the quantitative use of this technology, particularly measurements of the…
This article provides an overview of the structure and function of the National Skeletal Muscle Research Center (NSMRC) at the University of California, San Diego, which is one of the…
Cardiac complications are a common feature of many muscular dystrophies. Although many modalities (eg, ultrasound) provide exceptional efficacy for early diagnosis, repeated monitoring, and therapeutic management, MRI has become the…
Muscle degeneration in muscular dystrophies often includes a period of edema before fatty replacement of muscle tissue. Magnetic resonance imaging (MRI) has been used successfully to characterize muscle and fat…
Respiratory dysfunction due progressive weakness of the respiratory muscles, particularly the diaphragm, is a major cause of death in the neuromuscular disease (NMD) X-linked myotubular myopathy (XLMTM). Methods of respiratory…
Perturbations of homocysteine metabolism are associated with increased risk for cardiovascular disease, stroke, dementia, and depression, among other major diseases. To assess the relationship between hypohomocysteinemia (HH) and idiopathic peripheral…
Dual-energy x-ray absorptiometry (DEXA) is a safe, noninvasive, inexpensive tool for managing patients with neuromuscular diseases. Regional and whole-body DEXA can be used to guide clinical treatments, such as determining…
Active stretch is necessary for regulating muscle fiber length (ie, the number of series sarcomeres). Elevated cytoplasmic calcium is the proposed component of contractile activity required to activate signaling pathways…
Surgical restoration of key functions of the upper extremity has tremendous potential to increase autonomy, mobility, and self-esteem by resuming critical abilities in patients with tetraplegia. New strategies of surgical…
