Late Onset Tay-Sachs and Adult Onset Sandhoff
LATE ONSET TAY-SACHS AND ADULT ONSET SANDHOFF
Late Onset Tay-Sachs (LOTS) and Adult Onset Sandhoff are very rare forms of the diseases which usually occurs in individuals in their 20s and early 30s.
THE SIGNS
LOTS and Adult Onset Sandhoff is frequently misdiagnosed, and is usually non-fatal. It is characterized by unsteadiness of gait and progressive neurological deterioration. The symptoms of the diseases, which present in early adulthood include speech and swallowing difficulties, unsteadiness of gait and spasticity. Like all forms of Tay-Sachs and Sandhoff there is a loss of skills – although in the adult variant this takes much longer than a child with the Infantile form. Over a prolonged period of time adults slowly decline and require more assistance.
HOW IS IT DIAGNOSED
As the adult variant is very hard to diagnose, individuals can go many years before finding out they suffer from it. It is very common for adult patients to be misdiagnosed as having Multiple Sclerosis, ALS or Friedreich ataxia. Adults affected by the late onset variants do not exhibit the tell-tale cherry-red spot and 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. However, like all forms of Tay-Sachs and Sandhoff, the adult form is only confirmed by a blood test to see the actual levels of Hexosaminidase A (Hex-A) or Hexosaminidase B (Hex-B) they have. If the blood test confirms LOTS then all members of the individuals family should be tested to determine whether they are also a carrier of the disease. As an autosomal recessive disease it requires both parents of a the affected individual to be a carrier.