Stiff person syndrome er fortsat en vanskelig og overset diagnose

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

We present a case of stiff person syndrome (SPS) with a description of the diagnostic challenges and a discussion of the implication of novel antibodies. SPS is a rare neurological disorder presenting with severe rigidity, muscle spasms and impaired gait function, and diagnosis is often delayed due to low awareness. SPS is classically associated with antibodies directed against glutamic acid decarboxylase or amphiphysin. However, recent advances have contributed to our understanding because of detection of several new antibodies, which cause SPS, mostly with additional neurological/systemic manifestations.
OriginalsprogDansk
ArtikelnummerV03190166
TidsskriftUgeskrift for Laeger
Vol/bind181
ISSN0041-5782
StatusE-pub ahead of print - 2. sep. 2019

Fingeraftryk

Stiff-Person Syndrome
Glutamate Decarboxylase
Nervous System Diseases

Citer dette

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title = "Stiff person syndrome er fortsat en vanskelig og overset diagnose",
abstract = "We present a case of stiff person syndrome (SPS) with a description of the diagnostic challenges and a discussion of the implication of novel antibodies. SPS is a rare neurological disorder presenting with severe rigidity, muscle spasms and impaired gait function, and diagnosis is often delayed due to low awareness. SPS is classically associated with antibodies directed against glutamic acid decarboxylase or amphiphysin. However, recent advances have contributed to our understanding because of detection of several new antibodies, which cause SPS, mostly with additional neurological/systemic manifestations.",
author = "Nissen, {Mette Scheller} and Jonatan Forsberg and Matthias Bode and Morten Blaabjerg",
year = "2019",
month = "9",
day = "2",
language = "Dansk",
volume = "181",
journal = "Ugeskrift for Laeger",
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Stiff person syndrome er fortsat en vanskelig og overset diagnose. / Nissen, Mette Scheller; Forsberg, Jonatan; Bode, Matthias; Blaabjerg, Morten.

I: Ugeskrift for Laeger, Bind 181, V03190166, 02.09.2019.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Stiff person syndrome er fortsat en vanskelig og overset diagnose

AU - Nissen, Mette Scheller

AU - Forsberg, Jonatan

AU - Bode, Matthias

AU - Blaabjerg, Morten

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N2 - We present a case of stiff person syndrome (SPS) with a description of the diagnostic challenges and a discussion of the implication of novel antibodies. SPS is a rare neurological disorder presenting with severe rigidity, muscle spasms and impaired gait function, and diagnosis is often delayed due to low awareness. SPS is classically associated with antibodies directed against glutamic acid decarboxylase or amphiphysin. However, recent advances have contributed to our understanding because of detection of several new antibodies, which cause SPS, mostly with additional neurological/systemic manifestations.

AB - We present a case of stiff person syndrome (SPS) with a description of the diagnostic challenges and a discussion of the implication of novel antibodies. SPS is a rare neurological disorder presenting with severe rigidity, muscle spasms and impaired gait function, and diagnosis is often delayed due to low awareness. SPS is classically associated with antibodies directed against glutamic acid decarboxylase or amphiphysin. However, recent advances have contributed to our understanding because of detection of several new antibodies, which cause SPS, mostly with additional neurological/systemic manifestations.

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JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

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