muscular dystrophies/fatica

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Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass

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Design. This is a prospective case-control study investigating fat and glucose metabolism in patients with low muscle mass during prolonged fasting, comparing results to those found in healthy controls. Setting. All children were admitted to the Department of Pediatrics and Adolescents medicine,

Whole Body Vibration Therapy in Children With Spinal Muscular Atrophy

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Spinal muscular atrophy (SMA) is an X-chromosome-linked disorder, in which there is a loss of motor neurons from the anterior horn of the spinal cord due to a deletion of the SMN1 gene. SMA is usually classified under 4 categories, based on the onset time and severity of the conditions. Type I SMA

Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders

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SDB is a promiment clinical feature of various neuromuscular disorders including amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and myopathies such as myotonic dystrophy type 1, Pompe disease, and limb-girdle muscular dystrophies (LGMD). In ALS, SMA, LGMD and Pompe disease, SDB

GDF-15 as a Biomarker for Mitochondrial Disease

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BACKGROUND Energy insufficiency: Mitochondrial and metabolic myopathies are inherited diseases compromising cellular energy metabolism, which especially affects skeletal muscle because of its high energy needs. Chemical energy is stored in the body as adenosine triphosphate (ATP), which is derived

Role of Skeletal Muscle Nitric Oxide Production in Age-related Fatigue and Fatigability

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Fatigue is highly prevalent and associated with future mortality in older individuals. Even in non-disabled older persons, fatigue may be the primary reason for activity limitation. However, understanding the etiology of fatigue in this population has been hampered by differing or imprecise

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