Adult Onset Familial Cherry-Red Spot Myoclonus

We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the l...

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Bibliographic Details
Main Authors:	Chi Kyung Kim, Beom S. Jeon
Format:	Article
Language:	English
Published:	Korean Movement Disorders Society 2009-05-01
Series:	Journal of Movement Disorders
Subjects:	Cherry-red spot Lysosomal storage disease Myoclonus
Online Access:	http://e-jmd.org/upload/jmd-2-1-50-14.pdf

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spelling	doaj-a363f321999c400ebe2c2e5317925d272020-11-24T23:41:36ZengKorean Movement Disorders SocietyJournal of Movement Disorders2005-940X2093-49392009-05-0121505210.14802/jmd.0901487Adult Onset Familial Cherry-Red Spot MyoclonusChi Kyung KimBeom S. JeonWe report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive inheritance pattern suggested that she had an unknown type of lysosomal storage disease.http://e-jmd.org/upload/jmd-2-1-50-14.pdfCherry-red spotLysosomal storage diseaseMyoclonus
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Chi Kyung Kim Beom S. Jeon
spellingShingle	Chi Kyung Kim Beom S. Jeon Adult Onset Familial Cherry-Red Spot Myoclonus Journal of Movement Disorders Cherry-red spot Lysosomal storage disease Myoclonus
author_facet	Chi Kyung Kim Beom S. Jeon
author_sort	Chi Kyung Kim
title	Adult Onset Familial Cherry-Red Spot Myoclonus
title_short	Adult Onset Familial Cherry-Red Spot Myoclonus
title_full	Adult Onset Familial Cherry-Red Spot Myoclonus
title_fullStr	Adult Onset Familial Cherry-Red Spot Myoclonus
title_full_unstemmed	Adult Onset Familial Cherry-Red Spot Myoclonus
title_sort	adult onset familial cherry-red spot myoclonus
publisher	Korean Movement Disorders Society
series	Journal of Movement Disorders
issn	2005-940X 2093-4939
publishDate	2009-05-01
description	We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive inheritance pattern suggested that she had an unknown type of lysosomal storage disease.
topic	Cherry-red spot Lysosomal storage disease Myoclonus
url	http://e-jmd.org/upload/jmd-2-1-50-14.pdf
work_keys_str_mv	AT chikyungkim adultonsetfamilialcherryredspotmyoclonus AT beomsjeon adultonsetfamilialcherryredspotmyoclonus
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Adult Onset Familial Cherry-Red Spot Myoclonus

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