INFORMATION ON SANDHOFF DISEASE

Sandhoff Disease is disease of central nervous system that is found very rarely. Sandhoff disease is a genetic disorder so that it transfers in children through their parents. The most severe and very well known form of Sandhoff disease begins in childhood or infancy. Infants with sandhoff disorder usually appear normal up to the age of 3 to 6 months, when development of child slows and muscles used for movement weaken. As the time passes the sandhoff disorder grows and the various changes can be notice in a child patient like 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.

SYNONYMS OF SANDHOFF DISEASE

Synonyms of sandhoff disease are:

Gangliosidosis Beta Hexosaminidase B Defeciency.
Gangliosidosis GM2 Type 2.
Total hexosaminidase deficiency.

CAUSES OF SANDHOFF DISEASE

The main cause of sandhoff disease is lipid storage and this lipid storage happens due to deficiency of the enzyme beta-hexosaminidase. The result of Sandhoff Disease is lipid deposition in the brain and other organs of the body. Sandhoff Disease is a inherited disease coming from one or both parents who carry a defective gene that regulates a particular protein in a class of the body’s cells.

SYMPTOMS OF SANDHOFF DISEASE

Symptoms of sandhoff disease may be following:

1 Motor weakness.
2 Startle reaction to sound.
3 Mental and motor deterioration.
4 Frequent respiratory infections.
5 Sometimes early blindness may possible.
6 Macrocephaly means an abnormally enlarged head.
7 Doll-like facial appearance.
8 Cherry-red spots in the back of the eyes.
9 Involuntary skeletal muscular contractions of cerebral.
10 Shock-like contractions of a muscle.

TREATMENT OF SANDHOFF DISEASE

As we know that there are various symptoms of sandhoff disease so that treatment will depend on symptoms of sandhoff disease. There are various drugs are available to treat sandhoff disease.