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GM1 gangliosidoses



GM1 gangliosidoses
Classification & external resources
ICD-10 E75.1
ICD-9 330.1
OMIM 230600 230650, 230500
DiseasesDB 32008 32014
eMedicine ped/2891 
MeSH D016537

The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells.

Additional recommended knowledge

GM1 has three forms: early infantile, late infantile, and adult.

Early infantile GM1

Symptoms of early infantile GM1 (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response to sound, and problems with gait.

About half of affected patients develop cherry-red spots in the eye.

Children may be deaf and blind by age 1 and often die by age 3 from cardiac complications or pneumonia.

Late infantile GM1

Onset of late infantile GM1 is typically between ages 1 and 3 years.

Neurological symptoms include ataxia, seizures, dementia, and difficulties with speech.

Adult GM1

Onset of adult GM1 is between ages 3 and 30.

Symptoms include muscle atrophy, neurological complications that are less severe and progress at a slower rate than in other forms of the disorder, corneal clouding in some patients, and dystonia (sustained muscle contractions that cause twisting and repetitive movements or abnormal postures).

Angiokeratomas may develop on the lower part of the trunk of the body.

Most patients have a normal size liver and spleen.



 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "GM1_gangliosidoses". A list of authors is available in Wikipedia.
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