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KMID : 0860920110130010049
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2011 Volume.13 No. 1 p.49 ~ p.54
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A Case of Permanent Weakness in Andersen-Tawil Syndrome
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Kim Jun-Seok
Sung Duk-Hyun
Kang Min-Jae
Ko Kil-jun
Ki Chang-Seok
Kim Byoung-Joon
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Abstract
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The familial periodic paralysis (FPP) is a rare inherited channelopathy characterized by reversible attacks
of muscle weakness. It has been commonly considered to be a benign disease since frequency and severity
of the paralytic attacks improve in adulthood. However, with increasing age, a portion of the patients
develops permanent weakness and this may be explained by a progressive destruction of muscle tissue.
We report a 19 year-old man who had been showing permanent weakness after recurrent paralytic attacks,
which began in late childhood. Along with periodic paralysis, he also exhibited cardiac arrhythmia and
dysmorphic features. Clinical diagnosis of Andersen-Tawil syndrome was done by these triad. Up to now
there are many reports of FPP in Korea, but few or no studies of permanent weakness were reported,
especially in young age. We report atypical case of FPP with early onset of permanent weakness.
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KEYWORD
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Periodic paralysis , Permanent weakness , Andersen-Tawil syndrome
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