Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Neuromuscul Disord
; 31(8): 769-772, 2021 08.
Article
em En
| MEDLINE
| ID: mdl-34210542
ABSTRACT
Defects in the HEXB gene which encodes the ß-subunit of ß-hexosaminidase A and B enzymes, cause a GM2 gangliosidosis, also known as Sandhoff disease, which is a rare lysosomal storage disorder. The most common form of the disease lead to quickly progressing mental and motor decline in infancy; however there are other less severe forms with later onset that can also involve lower motor neurons. The diagnosis of this disease is based on low serum ß-hexosaminidases A and B levels and confirmed using genetic test. We report two siblings with compound heterozygous HEXB mutations whose phenotype was extremely mild consisting in stuttering in both cases associated to mild proximal weakness in one of the cases, broadening the clinical spectrum of late onset Sandhoff disease.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Sandhoff
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Gagueira
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Doença dos Neurônios Motores
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Neuromuscul Disord
Ano de publicação:
2021
Tipo de documento:
Article