영구적인 근력 약화를 보이는 Andersen-Tawil syndrome
A Case of Permanent Weakness in Andersen-Tawil Syndrome
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초록
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.
Abstract
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.
참고문헌 (9)
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