Gangliosidosis is a rare inherited lipid storage disorder caused by a recessive gene. There are two types, GM1 and GM2, with various forms and symptoms including neurodegeneration, seizures, and muscle weakness. The diseases are fatal except for rare cases of late-onset GM2, but can be prevented through genetic testing.
Gangliosidosis is a rare type of lipidosis, or lipid storage disorder, in which the affected lipids are gangliosides. Lipid storage disorders are inherited disorders in which harmful amounts of lipids, or fats, build up in the body’s tissues and cells. Gangliosides are lipids found on the surface of cells. There are two different forms of gangliosidosis, affecting two different types of gangliosides, called GM1 and GM2. Both types of the disease are caused by a recessive gene, which means both parents must be carriers for their child to be at risk of inheriting the disease.
GMI gangliosidosis occurs in three forms, depending on when symptoms begin: early infantile, late infantile, and adult. GM1 infancy is the most severe, with symptoms appearing shortly after birth. Symptoms include neurodegeneration or neuronal death, seizures, enlarged liver and/or spleen. Other common symptoms include skeletal irregularities and muscle weakness, coarse facial features and red spots in the eyes, a distended abdomen, and stiff joints. Children with GM1 in infancy often go deaf and blind within the first year of life and often die before age three, usually from cardiac complications of pneumonia.
Late infantile GM1 gangliosidosis first appears between one and three years of age and is characterized by muscle incoordination, seizures, dementia, and speech impairment. Adult GM1 patients begin to show symptoms between the ages of three and 30. As with other forms of the disease, muscular and neural degeneration is present, but usually progresses at a slower rate than in infantile forms of the disease. Corneal opacification and dystonia, in which muscles involuntarily contract into twisted positions, are additional possible symptoms. Some adult-onset GM1 patients develop red or blue lesions called angiokeratomas on the lower half of the body.
GM2 gangliosidosis also has three varieties: Tay-Sachs disease, Sandhoff disease, and variant AB, all of which are fatal except in very rare late-onset cases. All forms of GM2 gangliosidosis are characterized by rapid degeneration of the central nervous system, consisting of the brain and spinal cord. GM2 can be infantile, juvenile, or late-onset. The three varieties are clinically indeterminate from each other, although they have different genetic causes and affect different enzymes in the body.
Only the late-onset forms of GM2 gangliosidosis are not fatal, while sufferers of both infantile and juvenile forms rarely live beyond infancy. The late-onset forms are the rarest, while the infantile varieties are the most common. GM2 gangliosidoses cause a variety of neurological problems, including deafness, blindness, mental and psychological deterioration, and muscle wasting.
None of the varieties of gangliosidosis are curable, and most lead to death at an early age. However, because the genetic basis of the disease is known, prospective parents can tell if they are at risk of having a child with one of these disorders through a simple blood test. Therefore, the diseases are completely preventable.
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