glycogen storage disease type v/kuume

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McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature.

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McArdles disease (glycogen storage disease type v) is a rare condition in which energy-metabolism in the muscle is hampered. A case report is presented and the possible risk for perioperative complications including malignant hyperthermia is discussed. A checklist for the anesthesiological

Exercise capacity in a child with McArdle disease.

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We report the exercise capacity of an 8-year-old boy with clinical, histological, biochemical, and genetic evidence of McArdle disease. The patient presented with severe myalgia, proteinuria, hematuria, pyrexia, and elevated creatine kinase after swimming. After pre-exercise ingestion of sucrose, he

A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes.

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A 14-month-old girl was hospitalized due to repeated hyper-creatine kinase (CK)-emia during pyrexia. Mild hypotonia was observed, but other physical and neurological findings were unremarkable. The serum CK level was normal at rest or normothermia. Open muscle biopsy was performed on the rectus

[Anesthesia in a Patient with McArdle Disease].

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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 Misdiagnosed as Meningitis.

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BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage. CASE REPORT A

Anesthesia considerations in a patient with mcArdle disease: a case report.

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A patient with McArdle disease underwent bowel surgery with general anesthesia and was successfully managed. McArdle disease is a rare skeletal muscle disorder affecting approximately 1 in 100,000 people. McArdle disease, also known as type V glycogen storage disease, is an autosomal recessive

One-year follow-up in a child with McArdle disease: exercise is medicine.

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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,

Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.

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We report on 31 patients and 3 affected siblings (17 males and 17 females) from Southern France with McArdle disease (two from Spanish and three from Portuguese background). Molecular analysis revealed the presence of five previously described mutations: the common p.R50X nonsense mutation, the

Total thyroidectomys in patient with McArdle's syndrome: Anesthetic management.

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McArdle disease or type V glycogenosis is a rare metabolic myopathy consisting of muscle loss and weakness. These patients have risks associated with anaesthesia. They can present with hypoglycaemia, rhabdomyolysis, acute renal failure, and electrolyte changes. It has also been associated with a

Significance of Asymptomatic Hyper Creatine-Kinase Emia.

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Whether asymptomatic hyper-CKemia (AHCE) should prompt a thorough work-up for muscle disease or not is controversially discussed. This review aims at summarizing and discussing recent findings concerning the cause, frequency, evolution, and work-up of conditions manifesting as AHCE and

Exertional rhabdomyolysis: a clinical review with a focus on genetic influences.

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In this review, the clinical and laboratory features of exertional rhabdomyolysis (ER) are discussed in detail, emphasizing the full clinical spectrum from physiological elevations of serum creatine kinase after exertion to life-threatening rhabdomyolysis with acute kidney injury and associated

Substrate kinetics in patients with disorders of skeletal muscle metabolism.

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The main purpose of the following studies was to investigate pathophysiological mechanisms in fat and carbohydrate metabolism and effect of nutritional interventions in patients with metabolic myopathies and in patients with severe muscle wasting. Yet there is no cure for patients with skeletal

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