Defects in the mitochondrial ATP-generating system are one of the most commonly inherited neurological disorders, but they remain without treatment. We have recently shown that modulation of the peroxisome proliferator-activated receptor-gamma coactivator-1alpha (PGC-1alpha) level in skeletal muscle of a mitochondrial myopathy mouse model offers a therapeutic approach. Here we analyzed if endur...

The aim of this study was to characterize the metabolic disturbance associated with the skeletal myopathy resulting from extreme weight loss in anorexia nervosa. Muscle function was examined in eight female patients with severe (40%) weight loss due to anorexia nervosa and histologically confirmed myopathy. A wide range of biochemical and hematologic investigations were carried out, including s...

Takotsubo-syndrome (TTS) is characterized by sudden onset chest-pain and dyspnea, electrocardiographic changes resembling acute coronary syndrome, minimal elevation of cardiac enzyme levels and transient wall-motion abnormalities in the absence of coronary artery obstruction [1]. Although TTS occurs frequently after emotional or physical stress, non-triggered TTS, is reported in 10–66% of the c...

We report a patient with muscle weakness secondary to elevated serum sodium level. The cause of the elevated sodium level and the mechanism involved in producing muscle weakness are discussed.

Statins are widely used drugs to lower cholesterol levels and to reduce the risk of cardiovascular disease. However, it has been reported that statins are associated with adverse side effects of skeletal myopathy. Statin treatment can impair mitochondrial function and induce apoptosis in skeletal muscle in both human and animal models. Ubiquinone plays an essential role in transferring electron...

The purposes of this report are to review and discuss the issue of recurrent exertional rhabdomyolysis (ER), the return to physical activity after ER, and the possible causes of recurrence, with special consideration to metabolic myopathies and the possibility of an acquired post-ER myopathy. We discuss the medical investigation required prior to return to physical activity after an episode of ...

BACKGROUND Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders in a few patients; however, muscular abnormalities have not been reported in patients with Sturge-Weber syndrome. CASE PRESENTATION A Chinese girl presented with extensive po...

McArdle disease typically presents in childhood or young adults with myalgia, exercise intolerance, cramps and myoglobinuria. Deficiency of myophosphorylase enzyme results in inability to degrade glycogen stores, causing glycogen accumulation in muscle tissue and energy deficit. Evolution with rhabdomiolysis may occur and can be complicated with acute kidney injury but rarely, in about 11% of c...