Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Sandhoff disease, also called Hexosaminidase A and B deficiency,[1] is an autosomal recessive[2] lysosomal storage disorder that affects lipid storage and causes progressive destruction of the central nervous system.
It is clinically indistinguishable from Tay-Sachs disease,[1] but affects two hexosaminidase enzymes.[3]
Sandhoff disease was first illustrated in Life Science in 1968 by a German chemist named Konrad Sandhoff.[4][5] Konrad Sandhoff investigates biochemical and enzymatic aspects of the gangliosidoses and other lysosomal storage diseases.
The most common and severe form of Sandhoff disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some infants with Sandhoff disease may also have enlarged organs (organomegaly) or bone abnormalities. Children with the severe form of this disorder usually live only into early childhood.
Other forms of Sandhoff disease are very rare. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Sandhoff disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Sandhoff disease.
Symptoms of Sandhoff disease can appear in childhood, adolescence and in adulthood. The symptoms are motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, frequent respiratory infections, macrocephaly (an enlarged head), doll-like facial appearance, seizures, cherry red spots in the eyes, myoclonus (muscle contractions), and enlarged liver and spleen. These symptoms are similar to those of Tay-Sachs disease. The diseases are both inherited, and both involve the central nervous system.
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