Sandhoff’s Disease.edited.edited (1).docx - 1 Sandhoff’s...

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Sandhoff’s Disease
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Introduction
Sandhoff disease is a rare lysosomal storage disease mainly caused by detrimental
changes in the beta-hexosaminidases gene. Detrimental changes in genes reduce enzymes in the
lysosomes, resulting in a buildup of specific lipids in nerve cells. In turn, the lipid buildup
imposes damages to the central nervous system, impairing intellectual capacity and may result in
paralysis, especially in children. The absence of essential enzymes is the primary cause of
Sandhoff's disease. The most common form of this infection appears in infancy. Babies suffering
from this infection may seem normal until the age of 6 months, when their development begins
to slow and muscles start to weaken. Sandhoff's disease is genetics and thus can be transferred
from one generation to the other.
Signs and Symptoms
The disease is characterized by several signs and symptoms that are usually observed in
childhood, adolescence, and adulthood. The disease leads to the gradual regress of several skills
such as crawling during infancy, and this trend progresses rapidly. Infants with this disorder
experience loss of coordination within the first six months after birth, which causes difficulties in
crawling, sitting, and turning over (Sung, 2018). It can also cause feeding problems, delayed
speech, heart murmur, early blindness, and overreaction to loud noises. When sifted through by a
physician, he/she may notice red spots in the back of the eye and an abnormal reflex on foot,
which is a clear indicator of nervous system damage.
Besides, infants suffering from this illness may portray other signs such as unique facial
features and a large head. In most cases, babies with Sandhoff disease do not live past five years.