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Gangliosidosis- generalized GM1 type 2

Overview

GM1-gangliosidosis type II is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the \'late-infantile\' form, whereas those with slightly later onset and survival into late childhood are referred to as having the \'juvenile\' form

Symptoms - Gangliosidosis- generalized GM1 type 2

psychomotor regression and loss of developmental skills. By age 2 years, they had spastic quadriplegia with extensor plantar responses and tonic neck reflex. Optic discs were pale, but cherry-red spots were not observed. Visceromegaly, facial dysmorphism, and skeletal changes were not present.

Causes - Gangliosidosis- generalized GM1 type 2

A number sign (*) is used with this entry because GM1-gangliosidosis type II is caused by mutation in the gene encoding beta-galactosidase-1

Prevention - Gangliosidosis- generalized GM1 type 2

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Diagnosis - Gangliosidosis- generalized GM1 type 2

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Prognosis - Gangliosidosis- generalized GM1 type 2

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Treatment - Gangliosidosis- generalized GM1 type 2

Not supplied.

Resources - Gangliosidosis- generalized GM1 type 2

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