Pompes sygdom er en differentialdiagnose ved muskelsvaghed og abnorm træthed

Julie Schjødtz Hansen; Anne Ringer Ellingsen; Caroline M. Andreasen; Anne Grosen; Henning Andersen

Pompes sygdom er en differentialdiagnose ved muskelsvaghed og abnorm træthed

Translated title of the contribution: Pompe disease is a differential diagnosis in case of reduced physical capacity and abnormal muscular fatigue

Julie Schjødtz Hansen, Anne Ringer Ellingsen, Caroline M. Andreasen, Anne Grosen, Henning Andersen

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

1 Citation (Scopus)

Abstract

Late-onset Pompe disease is an inherited metabolic myopathy with low activity of alpha glucosidase and variable clinical symptoms. In this case report we describe a woman with long standing muscular fatigue and malaise with the diagnosis initially established by pathologic findings in the muscle biopsy. Enzyme replacement therapy is now a treatment option, and a prompt diagnosis is therefore relevant. This disease should be considered in patients with unexplained fatigue and reduced physical capacity, especially in case of concurrent elevated levels of creatine kinase and liver enzymes.

Translated title of the contribution	Pompe disease is a differential diagnosis in case of reduced physical capacity and abnormal muscular fatigue
Original language	Danish
Article number	V03140178
Journal	Ugeskrift for Læger
Volume	176
Issue	39
ISSN	0041-5782
Publication status	Published - 2014

Cite this

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title = "Pompes sygdom er en differentialdiagnose ved muskelsvaghed og abnorm tr{\ae}thed",

abstract = "Late-onset Pompe disease is an inherited metabolic myopathy with low activity of alpha glucosidase and variable clinical symptoms. In this case report we describe a woman with long standing muscular fatigue and malaise with the diagnosis initially established by pathologic findings in the muscle biopsy. Enzyme replacement therapy is now a treatment option, and a prompt diagnosis is therefore relevant. This disease should be considered in patients with unexplained fatigue and reduced physical capacity, especially in case of concurrent elevated levels of creatine kinase and liver enzymes. ",

keywords = "Diagnosis, Differential, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II/diagnosis, Humans, Muscle Fatigue/genetics, Young Adult",

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year = "2014",

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Pompes sygdom er en differentialdiagnose ved muskelsvaghed og abnorm træthed. / Hansen, Julie Schjødtz; Ellingsen, Anne Ringer; Andreasen, Caroline M. et al.
In: Ugeskrift for Læger, Vol. 176, No. 39, V03140178, 2014.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Pompes sygdom er en differentialdiagnose ved muskelsvaghed og abnorm træthed

AU - Hansen, Julie Schjødtz

AU - Ellingsen, Anne Ringer

AU - Andreasen, Caroline M.

AU - Grosen, Anne

AU - Andersen, Henning

PY - 2014

Y1 - 2014

N2 - Late-onset Pompe disease is an inherited metabolic myopathy with low activity of alpha glucosidase and variable clinical symptoms. In this case report we describe a woman with long standing muscular fatigue and malaise with the diagnosis initially established by pathologic findings in the muscle biopsy. Enzyme replacement therapy is now a treatment option, and a prompt diagnosis is therefore relevant. This disease should be considered in patients with unexplained fatigue and reduced physical capacity, especially in case of concurrent elevated levels of creatine kinase and liver enzymes.

AB - Late-onset Pompe disease is an inherited metabolic myopathy with low activity of alpha glucosidase and variable clinical symptoms. In this case report we describe a woman with long standing muscular fatigue and malaise with the diagnosis initially established by pathologic findings in the muscle biopsy. Enzyme replacement therapy is now a treatment option, and a prompt diagnosis is therefore relevant. This disease should be considered in patients with unexplained fatigue and reduced physical capacity, especially in case of concurrent elevated levels of creatine kinase and liver enzymes.

KW - Diagnosis, Differential

KW - Enzyme Replacement Therapy

KW - Female

KW - Glycogen Storage Disease Type II/diagnosis

KW - Humans

KW - Muscle Fatigue/genetics

KW - Young Adult

M3 - Tidsskriftartikel

C2 - 25294332

SN - 0041-5782

VL - 176

JO - Ugeskrift for Læger

JF - Ugeskrift for Læger

IS - 39

M1 - V03140178

ER -

Pompes sygdom er en differentialdiagnose ved muskelsvaghed og abnorm træthed

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