Abstract At the neuromuscular junction (NMJ), postsynaptic ionotropic acetylcholine receptors (AChRs) transduce a chemical signal released from cholinergic motor neuron into an electrical to induce muscle contraction. To identify regulators of function, we conducted genome-wide RNAi screen for genes required proper response levamisole, pharmacological agonist L-AChRs at Caenorhabditis elegans N...

The identification of the etiology of metabolic bone disease that leads to myopathy is important as this type of muscle weakness often responds fully to treatment. We present the case history of an 11-year-old girl with celiac disease who had rickets masquerading as muscle weakness and bone pains.

Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, a...

A 48-year-old man, using statin, was admitted to hospital with progressive myalgia after consumption of tadalafil and simvastatin. Muscle pain and penile erection disappeared seven days after interruption of therapy. This case demonstrates the interaction of tadalafil with simvastatin resulting in myopathy. Muscle damage could be attributed to the common metabolic way of these two drugs which i...

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive multisystemic neurodegenerative disorder. MELAS syndrome impairs oxidative phosphorylation and predisposes patients to lactic acidosis, particularly under metabolic stress. We report 2 siblings with MELAS-associated idiopathic scoliosis who underwent posterior spinal instrumented fusion with me...