25

GM1 Gangliosidosis synonyms

What other names are the GM1 Gangliosidosis known by? Synonyms and other terms with which GM1 Gangliosidosis is known.

GM1 Gangliosidosis is also known as...

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:



  • GM1 gangliosidosis type 1

  • Infantile GM1 gangliosidosis

  • Cherry red spot-myoclonus syndrome

  • Landing disease


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.


Diseasemaps
1 answer

GM1 Gangliosidosis is also known as...

GM1 Gangliosidosis life expectancy

What is the life expectancy of someone with GM1 Gangliosidosis?

2 answers
Celebrities with GM1 Gangliosidosis

Celebrities with GM1 Gangliosidosis

1 answer
Is GM1 Gangliosidosis hereditary?

Is GM1 Gangliosidosis hereditary?

2 answers
Is GM1 Gangliosidosis contagious?

Is GM1 Gangliosidosis contagious?

2 answers
Natural treatment of GM1 Gangliosidosis

Is there any natural treatment for GM1 Gangliosidosis?

1 answer
ICD9 and ICD10 codes of GM1 Gangliosidosis

ICD10 code of GM1 Gangliosidosis and ICD9 code

2 answers
Living with GM1 Gangliosidosis

Living with GM1 Gangliosidosis. How to live with GM1 Gangliosidosis?

1 answer
GM1 Gangliosidosis diet

GM1 Gangliosidosis diet. Is there a diet which improves the quality of life...

1 answer

World map of GM1 Gangliosidosis

Find people with GM1 Gangliosidosis through the map. Connect with them and share experiences. Join the GM1 Gangliosidosis community.

Stories of GM1 Gangliosidosis

GM1 GANGLIOSIDOSIS STORIES
GM1 Gangliosidosis stories
http://gm-123.org/ Eli was born in March 2009, and progressed pretty normally until about age 18 months. He will be 7 years old in March 2016. At age 2 his development began to slow and gradually regressed. He is currently 6 years old and can no lon...
GM1 Gangliosidosis stories
The Cure GM1 Foundation is dedicated to hope and to directly funding research for a cure for GM1 Gangliosidosis, a lysosomal storage disease that attacks the brain and spinal cord and is always fatal in children.  GM1 is a progressive and degenerati...
GM1 Gangliosidosis stories
Scarlet was born in London in March 2006. She was diagnosed with GM1 Gangliosidosis in October 2006 in Perth, Australia while in transit from London to Auckland, New Zealand where her family was relocating. Scarlet was assessed at Auckland Starship C...
GM1 Gangliosidosis stories
My son is 26 years old, his name is Eric. He was diagnosed at age 12. He can no longer speak or walk and wears diapers. We have been fighting GM1 TYPE II for 26 years and it is devastating.       
GM1 Gangliosidosis stories
LL began to regress at age 18 months. An exact date may be impossible to know. pretty normal 18 month old girl, then slowly no talking, no more walking, stopped feeding herself, no crawling, arm movement is only waves and some uncontrolled movement. ...

Tell your story and help others

Tell my story

GM1 Gangliosidosis forum

GM1 GANGLIOSIDOSIS FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map