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Atypical presentation of late‐onset Tay‐sachs disease
Author(s) -
Deik Andres,
SaundersPullman Rachel
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24146
Subject(s) - presentation (obstetrics) , tay sachs disease , medicine , pediatrics , disease , surgery
: Late‐onset Tay‐Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta‐hexosaminidase A activity. Methods : We describe a 53‐year‐old woman who presented with adult‐onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid‐life prompted reassessment. Results : Beta‐hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS. Conclusions : The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. Muscle Nerve 49 : 768–771, 2014