Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; 21(1-2): 144-146, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-31512525
ABSTRACT
Sandhoff disease is an under-recognized disease that may present as a lower motor neuron disorder in adulthood. We report the case of siblings presenting in their late 40s with a motor neuron disease phenotype and were misdiagnosed as amyotrophic lateral sclerosis and later found to have Sandhoff disease. Sandhoff disease should be considered in patients presenting with a slowly progressive predominately lower motor neuron disorder. A simple low-cost blood test can confirm the diagnosis.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Sandhoff
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Doença dos Neurônios Motores
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Esclerose Lateral Amiotrófica
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article