GLUCOGENOSIS MUSCULAR PDF

Congenital form of glycogen storage disease type IV: a case report and a review of the literature. Pediatr Int. No abstract available. Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome. Ann Noninvasive Electrocardiol. The intracellular transport of chylomicrons requires the small GTPase, Sar1b.

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Only comments written in English can be processed. Myophosphorylase deficiency McArdle's disease , or glycogen storage disease type 5 GSD5 , is a severe form of glycogen storage disease characterized by exercise intolerance. Onset occurs in childhood. Patients present with a syndrome of muscular exercise intolerance with myalgia, cramps, fatigue, and muscle weakness.

A 'second wind' phenomenon with relief of myalgia and fatigue after a few minutes of rest is observed in many patients. The clinical presentation is usually very classical, but some patients may have very moderate forms. In a few cases, onset very early in life with hypotonia, generalized muscle weakness and progressive respiratory failure has been described. The condition is caused by mutations in the PYGM gene 11q13 , leading to muscle phosphorylase deficiency.

Mutation p. The diagnosis is based on biological findings revealing a lack of lactate elevation in blood during ischemic forearm test, excess glycogen, and deficient phosphorylase activity in the muscle biopsy. Treatment is based on controlled physical training in order to develop mitochondrial oxidation capacities in muscles, and programmed glucose intake according to exercising periods. Diets with high protein intake have yielded variable results. Prognosis is favorable when severe rhabdomyolysis is avoided.

However, myoglobinuria may lead to potentially life-threatening renal failure. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition Myophosphorylase deficiency McArdle's disease , or glycogen storage disease type 5 GSD5 , is a severe form of glycogen storage disease characterized by exercise intolerance.

Summary Epidemiology Prevalence is unknown. Clinical description Onset occurs in childhood. Etiology The condition is caused by mutations in the PYGM gene 11q13 , leading to muscle phosphorylase deficiency. Diagnostic methods The diagnosis is based on biological findings revealing a lack of lactate elevation in blood during ischemic forearm test, excess glycogen, and deficient phosphorylase activity in the muscle biopsy.

Differential diagnosis The differential diagnosis should include GSD type 7 see this term. Genetic counseling The condition is autosomal recessive. Management and treatment Treatment is based on controlled physical training in order to develop mitochondrial oxidation capacities in muscles, and programmed glucose intake according to exercising periods.

Prognosis Prognosis is favorable when severe rhabdomyolysis is avoided. Detailed information Article for general public Svenska Professionals Anesthesia guidelines English , pdf Guidance for genetic testing English , pdf Clinical genetics review English Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s Health care resources for this disease Expert centres Diagnostic tests 74 Patient organisations 81 Orphan designation s and orphan drug s 2.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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[Metabolic Myopathies]

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Myophosphorylase deficiency McArdle's disease , or glycogen storage disease type 5 GSD5 , is a severe form of glycogen storage disease characterized by exercise intolerance.

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