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Diseases

Genetic and Rare Diseases Information Center (GARD)

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GM1 gangliosidosis


Other Names for this Disease
  • Beta galactosidase 1 deficiency
  • Beta-galactosidosis
  • GLB 1 deficiency
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Symptoms


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What are the signs and symptoms of GM1 gangliosidosis?

There are three types of GM1 gangliosidosis. They differ in severity but can have considerable overlap of signs and symptoms.[1]

Classic infantile (type 1) GM1 gangliosidosis is the most severe type, with onset shortly after birth (usually within 6 months of age).[1] Affected infants typically appear normal until onset, but developmental regression (loss of acquired milestones) eventually occurs.[1] Signs and symptoms may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, a distended abdomen, muscle weakness, an exaggerated startle response to sound, and problems with gait (manner of walking). About half of individuals with this type develop cherry-red spots in the eye. Children may become deaf and blind by one year of age.[2][3][4] Affected children typically do not live past 2 years of age.[1]

Signs and symptoms of juvenile (type 2) GM1 gangliosidosis, considered an intermediate form of the condition, may begin between the ages of 1 and 5. Features include include ataxia, seizures, dementia, and difficulties with speech. This type progresses more slowly than type 1, but still causes decreased life expectancy (around mid-childhood or early adulthood).[1]

Adult (type 3) GM1 ganglioosidosis may cause signs and symptoms to develop anywhere between the ages of 3 and 30. Affected individuals may have muscle atrophy, corneal clouding and dystonia.[2][3][4] Non-cancerous skin blemishes may develop on the lower part of the trunk of the body.[2] Adult GM1 is usually less severe and progresses more slowly than other forms of the condition.[2][3][4]
Last updated: 8/6/2012

References
  1. GM1 gangliosidosis. Genetics Home Reference. July 2010; http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis. Accessed 4/3/2012.
  2. NINDS Gangliosidoses Information Page. National Institute of Neurological Disorders and Stroke (NINDS). October 2011; http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm. Accessed 4/3/2012.
  3. Tegay D. GM1 Gangliosidosis. eMedicine. March 29, 2012; http://emedicine.medscape.com/article/951637-overview. Accessed 4/3/2012.
  4. About Gangliosidosis-1 (GM-1). National Tay-Sahs and Allied Diseases Association, Inc.. http://www.ntsad.org/index.php/gm-1-disease. Accessed 4/3/2012.