Glycogen storage disease due to acid maltase deficiency (Q84784): Difference between revisions
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Doença de depósito de glicogênio tipo 2, ou doença de Pompe, é uma doença de depósito lisossomal, na qual os os músculos esqueléticos e respiratórios são afetados em vários graus de gravidade e, na forma infantil, é associada com cardiomiopatia hipertrófica. A forma infantil da doença começa a se manifestar antes dos 3 meses de vida com hipotonia, dificuldades de sucção e deglutição, cardiomiopatia hipertrófica e hepatomegalia progressiva. A forma adulta resulta em miopatia progressiva, começando nos membros inferiores e afetando o sistema respiratório .Entre estes dois extremos existe um grande espectro de formas intermediárias | |||
| description / en | description / en | ||
Glycogen storage disease type 2 (GSD II), or Pompe disease, is a lysosomal storage disease which particularly affects the skeletal and respiratory muscles with varying degrees of gravity and which, in the infantile form, is associated with hypertrophic cardiomyopathy. The infantile form of the disease starts before the age of 3 months with major hypotonia, sucking and swallowing difficulties, hypertrophic cardiomyopathy and progressive hepatomegaly. The adult form results in progressive limb-girdle myopathy beginning with the lower limbs, and affects the respiratory system. A large spectrum of intermediate forms exists between these two extremes. | |||
Revision as of 10:08, 15 August 2026
Glycogen storage disease type 2 (GSD II), or Pompe disease, is a lysosomal storage disease which particularly affects the skeletal and respiratory muscles with varying degrees of gravity and which, in the infantile form, is associated with hypertrophic cardiomyopathy. The infantile form of the disease starts before the age of 3 months with major hypotonia, sucking and swallowing difficulties, hypertrophic cardiomyopathy and progressive hepatomegaly. The adult form results in progressive limb-girdle myopathy beginning with the lower limbs, and affects the respiratory system. A large spectrum of intermediate forms exists between these two extremes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1427054474 |
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| English | Glycogen storage disease due to acid maltase deficiency |
Glycogen storage disease type 2 (GSD II), or Pompe disease, is a lysosomal storage disease which particularly affects the skeletal and respiratory muscles with varying degrees of gravity and which, in the infantile form, is associated with hypertrophic cardiomyopathy. The infantile form of the disease starts before the age of 3 months with major hypotonia, sucking and swallowing difficulties, hypertrophic cardiomyopathy and progressive hepatomegaly. The adult form results in progressive limb-girdle myopathy beginning with the lower limbs, and affects the respiratory system. A large spectrum of intermediate forms exists between these two extremes. |
