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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Late Onset Tay-Sachs


First signs - Early symptoms of Late Onset Tay-Sachs (LOTS) include clumsiness and muscle weakness in the legs. Once diagnosed, adults often reflect back to their childhood and realize they experienced symptoms much earlier such as not being athletic, speech difficulties and/or a stutter as a child or teenager.

Mental health symptoms may present first which can lead to an especially long road to diagnosis. About 40% of affected adults experience mental health symptoms such as bi-polar or psychotic episodes.

Gradual Loss of skills - Over time adults with Late Onset Tay-Sachs 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.

Long Road to Diagnosis

Late Onset Tay-Sachs may be hard to diagnose. Some adults go five or more years before learning their true diagnosis. In some cases it may be misdiagnosed as Multiple Sclerosis or ALS.

Adults affected by the adult form of Tay-Sachs do not exhibit the tell-tale cherry-red spot, which can contribute to a challenging and long road to diagnosis. 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.

Tay-Sachs disease is diagnosed through a blood test to check the level of Hexosaminidase A (HexA). A follow-up DNA test may be recommended.  Any doctor can order the Tay-Sachs HexA blood test. Often, a diagnosis is confirmed by a neurologist and/or geneticist, and after the completion of a metabolic evaluation.

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, Tay-Sachs is a difficult diagnosis to receive and there can be a sense of regret and frustration.

Living with Late Onset Tay-Sachs

There is no treatment or cure for Tay-Sachs disease but there are ways to manage.

Mobility, speech and mental health are the primary symptom management issues of Late Onset Tay-Sachs. These symptoms frequently lead to other challenges related to employment, housing and communication. Click here to learn more about living with the disease.

Late Onset Tay-Sachs is a challenging and debilitating disorder but doesn't always shorten life span like the childhood forms of Tay-Sachs. 

Read the "Topic of the Week" featuring the stories of two patients with Late Onset Tay-Sachs here.


Explore More:

 Research - the latest in Late Onset research  

 Support - symptom management, where and how to find help, and how to cope. 

 Causes - the missing HexA enzyme

 History of Tay-Sachs Disease - named for Warren Tay and Bernard Sachs

FDA Listening Session

NTSAD was granted an a Patient-led Listening Session with the FDA for Late Onset GM2 that was held virtually on Janurary 15, 2021. The objectives were to provide an understanding of Late Onset GM2 Gangliosidosis (Tay Sachs and Sandhoff), burden and symptom progression, heterogeneity of Late Onset GM2, and potential issues related to drug development.

Download the summary here NTSAD Late Onset GM2 Listening Session Summary.