What are the symptoms of adult Late Onset GM1?

First signs - Early symptoms of Late Onset GM1 gangliosidosis include clumsiness and muscle weakness in the legs. Once diagnosed, adults often reflect back to their childhood and may notice experiencing symptoms much earlier such as not being athletic and/or speech difficulties or a stutter as a child or teenager.

Gradual Loss of skills - Over time, adults with Late Onset GM1 gangliosidosis slowly decline. Adults frequently require more mobility assistance, i.e. cane to walker to wheelchair. Many experience speech and swallowing difficulties but few require a feeding tube.

How is Late Onset GM1 Diagnosed?

Late Onset GM1 gangliosidosis may be hard to diagnosis. Some adults go 5 or more years before learning their true diagnosis. It may sometimes be misdiagnosed as Multiple Sclerosis or ALS.

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 GM1 gangliosidosis GLB1 blood test. Often, diagnosis is made by a neurologist or geneticist.

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

Adults that display mental health symptoms before physical symptoms often experience the longest road to diagnosis.

Many affected adults express mixed emotions when finally receiving their diagnosis. After years of not knowing the cause of their progressive symptoms, they may experience a certain amount of relief when an accurate diagnosis is determined. At the same time, GM1 gangliosidosis is a difficult diagnosis to receive and there can be a sense of regret and frustration.

Living with adult Late Onset GM1

Late Onset GM1 gangliosidosis is a challenging and debilitating disorder but doesn't always shorten life span like the childhood forms of Sandhoff. Visit Tay-Sachs, Sandhoff and GM-1 Late Onset Support to learn more about living a full and empowered life with Late Onset GM1 gangliosidosis.

GM1 Family Information Packet

NTSAD offers a free information packet that includes materials on the following topics.

• symptom management
• research updates
• how to cope

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