GM1 Gangliosidosis is a rare genetic disorder that belongs to a group of diseases known as lysosomal storage disorders. It is also referred to by several other names, including:
This condition is caused by a deficiency of an enzyme called beta-galactosidase, which is responsible for breaking down a fatty substance called GM1 ganglioside. As a result, GM1 ganglioside accumulates in various tissues and organs, leading to progressive damage.
GM1 gangliosidosis type 1 is the most severe form of the disorder and typically presents in early infancy. Infants with this form experience developmental regression, loss of motor skills, and progressive neurological deterioration. They may also exhibit cherry red spots in their eyes, seizures, muscle stiffness, and an enlarged liver and spleen.
Infantile GM1 gangliosidosis is another term used to describe the early-onset form of the disease. It is characterized by rapid neurodegeneration, resulting in severe developmental delays, muscle weakness, and impaired vision. Affected infants often have a shortened lifespan, with most not surviving beyond early childhood.
Cherry red spot-myoclonus syndrome refers to the combination of cherry red spots in the eyes and myoclonus (involuntary muscle jerks). This syndrome is a prominent feature of GM1 gangliosidosis and can aid in its diagnosis.
Landing disease is yet another name for GM1 gangliosidosis, named after the physician who first described the condition. It encompasses the various forms of the disorder and highlights the multisystemic nature of the disease.
Overall, GM1 gangliosidosis is a devastating disorder with various synonyms that reflect its different clinical presentations and manifestations. Early diagnosis and supportive care are crucial in managing the symptoms and improving the quality of life for affected individuals.