Trang 1 từ 52 các kết quả
McArdle disease is an autosomal recessive muscle glycogenosis. In the typical clinical presentation, only exercise-related symptoms are noted. Nevertheless, permanent weakness may occur, usually late in life. In this study we report on the clinical and genetic features of fixed muscle weakness in
In 1951, McArdle described a glycogen storage disorder which presents primarily as a myopathy. It is characterized by muscle pain, weakness and exercise intolerance with elevated creatine kinase from rhabdomyolysis. The pathophysiology involves a deficiency of myophosphorylase enzyme resulting in an
A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was "myopathic," serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This
McArdle disease, known as type V glycogen storage disease, is a rare skeletal muscle disorder. Patients with McArdle disease lack skeletal muscle specific glycogen phosphorylase, and myophosphorylase. This subsequently leads to an elevation in serum creatine kinase levels, and results in suffering
McArdle disease is a glycogenetic myopathy caused by a deficit of myophosphorylase inherited in an autosomal recessive pattern. Here, we report a case of McArdle disease in which fatigability was the only subjective complaint. Objective neurological findings were normal except for very mild muscle
McArdle's disease or myophosphorylase deficiency is one of the most common muscle glycogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in exercising muscle. We describe an elderly man who developed asymmetric proximal arm
Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon.
OBJECTIVE
McArdle disease is a nonlysosomal glycogenosis that classically manifests with exercise-induced pain from childhood. Fixed weakness may occur from the fifth decade and is typically mild and located around the shoulder girdle.
METHODS
We describe a 61-year-old man with exercise-induced pain
Background McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exercise intolerance,myoglobinuria rhabdomyolysis and acute renal failure. This is an update of a review first published in 2004.Objectives To review systematically the evidence
A 9-year-old boy with McArdle disease, who demonstrated remarkable recovery of objectively measured exercise tolerance after 1 year of follow-up, during which he pursued age-appropriate physical activities. The patient presented 1 year previously with severe myalgia, muscle weakness, proteinuria,
Type 1 diabetes (the pancreas producing little or no insulin) is usually diagnosed in children and young adults and was previously known as juvenile diabetes. McArdle disease is a common metabolic defect caused by an inherited deficit of myophosphorylase. These 2 diseases might have some
We present an adolescent with McArdle disease and recurrent acute kidney failure due to rhabdomyolysis. The patient was admitted with acute kidney failure for 3 times and due to a history of proximal weakness, fatigue, and muscular cramps after physical activities a glycogen-storage disease was
A clinical, biochemical, histological and molecular genetic analysis of 60 McArdle patients (33 males and 27 females; mean age at diagnosis: 37 years) was performed. The objective of this study was to identify a possible genotype-phenotype correlation in McArdle disease. All patients complained of
A 13-year-old girl was referred to our clinic because of a positive rheumatoid factor test, muscle pain and weakness. Laboratory evaluation revealed an increased ESR, hypergammaglobulinaemia, antinuclear antibodies, circulating immune complexes, complement consumption and elevated serum creatine
A girl had generalized, rapidly progressive weakness beginning at age 4 weeks, and causing severe respiratory insufficiency and death at age 13 weeks. Histochemical and biochemical investigations of a muscle biopsy showed increased glycogen concentration and complete lack of phosphorylase activity.