What are the symptoms of Juvenile GM1?

First signs - Early symptoms of GM1 gangliosidosis include lack of coordination or clumsiness and muscle weakness such as struggling with stairs. A child may also exhibit slurred speech, swallowing difficulties and muscle cramps.

Gradual Loss of skills - Over time children with GM1 gangliosidosis slowly decline, losing their ability to walk, eat on their own and communicate. Children are prone to respiratory infections and often experience recurrent bouts of pneumonia.  Many have seizures.

Range of Severity - Juvenile GM1 gangliosidosis has a broad range of severity. In most cases, the earlier the first signs are observed, the more quickly the disease will progress. For example, a child with first symptoms at age 2 will decline faster than a child with first symptoms at age 5.

How does Juvenile GM1 get diagnosed?

GM1 gangliosidosis is diagnosed through a blood test to check the level of beta-galactosidase (GLB1). A follow-up DNA test may be recommended.  Any doctor can order the GM-1 GLB1 blood test. Often, diagnosis is made by a neurologist or geneticist.

Children affected by Juvenile form of GM1 gangliosidosis disease do not exhibit the tell-tale cherry-red spot in the eye.  This can make the road to diagnosis long and challenging. Unfortunately many healthcare providers are not aware of the rare juvenile forms of these diseases and dismiss the initial diagnosis due to the age of the child. 

How do I care for a child with Juvenile GM1?

There is no treatment or cure for GM1 gangliosidosis disease but there are ways to manage symptoms. These range from life-extending interventions like a feeding tube to comfort measures like massage to promote relaxation.

Progressive loss of ambulatory skills followed by respiratory health and seizure management are the main symptom management issues in Juvenile GM1 gangliosidosis. 

Recommendations for managing the symptoms appear in Infantile & Juvenile Support

Newly diagnosed families should read Philosophy of Care, a guide to help parents develop a care plan and care goals to aid in major care choices.

GM1 Family Information Packet

Someone you love has been diagnosed with a disease without a treatment or cure. You don't know what to do. NTSAD offers a free information packet that includes materials on;

• symptom management
• research updates
• how to cope

Request it today by completing our online request form: Contact Us.