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Home > West Medicine > Internal Medicine > Rheumatology
百科

GM1 gangliosidosis

风湿免疫科

Common symptoms

抽风、眼底黄斑部的樱...、肝脾肿大、表情淡漠、短颈、共济失调、腱反射亢进、心动过速、口齿不清、反应迟钝

The pathology of disease

GM1 gangliosidosis is lysosomal storage disease; beta-galactosidase deficiency; infantile neurodegeneration; cherry-red spot; hepatosplenomegaly; skeletal dysplasia; no cure; palliative.

Symptoms

Developmental regression; cherry-red spot; hepatosplenomegaly; skeletal dysplasia; infantile; hypotonia; no cure

Causes

GLB1 mutation; beta-galactosidase deficiency; autosomal recessive; GM1 storage.

Treatment

Supportive; palliative; enzyme replacement trial; neurology/metabolic; genetic counseling

Dept

Pediatrics / neurology / metabolic / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.

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