More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
GM1 gangliosidosis is a rare lysosomal storage disorder caused by deficient activity of the enzyme beta-galactosidase, leading to the accumulation of GM1 gangliosides in cells. It presents in infancy or early childhood with progressive neurological symptoms including developmental regression, muscle weakness, and seizures. There are three types based on severity: infantile, juvenile, and adult. Treatment mainly focuses on managing symptoms and providing supportive care to improve the individual’s quality of life.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Mutations in the GLB1 gene cause a reduction in the body’s ability to produce an enzyme called beta-galactosidase. This enzyme breaks down GM1 ganglioside. When this is not broken down, it builds up in nerve cells of the brain and spinal cord, causing the described symptoms.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
Three types occur. Significant white matter abnormalities only occur with type 1.
In type 1 symptoms appear at or soon after birth with poor feeding, lethargy, floppiness and sometimes swelling of the face and body. An abnormal facial appearance may be present. Development is very delayed and abnormal startle is common. Progressive physical and mental deterioration occurs and blindness is common.
Type 2 is slower in onset with first signs appearing between 6 months and 2 years with progressive motor and cognitive problems, abnormal startle and later onset of blindness. Life span averages between 3 and 10 years.
Type 3 usually starts between 10 and 20 years of age with abnormal walking and speech disturbance and the development of abnormal movements which are often slowly progressive.
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
We take great care in only selecting credible, useful links and resources, however we cannot be held responsible for the content of external websites or other sources.
PassageBio have produced a disease information guide for patients and families. There are versions available in both English and Spanish.
Guide in English: GM1 Patient Brochure – English
Guide in Spanish: GM1 Patient Brochure – Spanish