Definition:
Sandhoff Disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzymes Hexosaminidase A (Hex-A) and Hexosaminidase B (Hex-B), which results in the accumulation of certain fats, known as gangliosides in the brain and in other organs of the body.

Since gangliosides are produced only by nervous tissue, they will accumulate only in nervous tissue, even though the enzyme is deficient in all cells. This deficiency gives rise to the clinical symptoms of this disorder.

Even though Sandhoff Disease is similar to Tay-Sachs disease in its symptom manifestation, it is less prevalent among the Eastern European Jewish population.

Symptoms:
Onset of the symptoms usually occurs at around six months of age. Typically, the earlier the onset of symptoms, the quicker the progression of the disorder.

Neurological symptoms may include motor weakness, a startled response to sound, early blindness, progressive mental and motor deterioration, an abnormally enlarged head, red spots in the eyes, seizures, and abrupt muscle contractions. Other symptoms may include respiratory infections, doll-like facial features, and an enlarged liver and spleen.

Inheritance Pattern:
Sandhoff Disease is an autosomal recessive disorder.

Diagnosis and Testing:
Sandhoff Disease can be detected through a liver tissue biopsy or an enzyme assay to determine whether abnormally low levels of the enzyme, beta-hexosaminidase, can be found in the body.

Genetic screening can determine an individual’s carrier status before he or she chooses to have children. Some medical professionals highly recommend DNA testing even for individuals who do not have a family history of Sandhoff Disease.  More than 95% of the families that have children with this disorder had no known prior family history of the condition, due to the gene mutation’s silent or recessive nature and to its ability to pass from one generation to another without recognition.  Genetic counseling is recommended for those who have the mutation.

Life Expectancy:
Life expectancy for Sandhoff Disease is three years of age or younger. The cause of death is usually a respiratory infection.

Treatment:
There is no cure for Sandhoff Disease.  Treatments to manage symptoms of the disease include proper nutrition and hydration, and keeping the airway open. Anticonvulsant medication may help to control seizures.  Transplantation of stem cells derived from umbilical cord blood has been attempted in some children with Sandhoff Disease.  Although this potential treatment has not yet produced a cure or lessening of symptoms, medical professionals continue to study this and other approaches.

Patient Groups:
Sandhoff Disease
259 Majorca Road
St. Augustine, FL 32080
http://www.sandhoffdisease.webs.com/
tel: (904) 662-1840
Gina Watkins
gmwatkins74@yahoo.com