First signs - Early symptoms of Late Onset GM-1 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 GM-1 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.
Late Onset GM-1 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.
Gangliosidosis-1 (GM-1) 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.
Adults affected by the adult form of GM-1 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, GM-1 is a difficult diagnosis to receive and there can be a sense of regret and frustration.
Late Onset GM-1 is a challenging and debilitating disorder but doesn’t always shorten life span like the childhood forms of Sandhoff. Visit Suppot for Tay-Sachs, Sandhoff, and GM-1 LOTS (Late Onset) to learn more about living a full and empowered life with Late Onset GM-1.
