Sandhoff disease
Sandhoff disease is a rare, genetic, metabolic disorder characterized by the absence or deficiency of the enzymes beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are involved in the degradation of certain fats known as gangliosides, specifically GM2 gangliosides, in the nerve cells of the brain.
Pronunciation
Sandhoff disease is pronounced as "san-doff" disease.
Etymology
The disease is named after the German physician Dr. Konrad Sandhoff, who first described the condition in 1963.
Symptoms
The symptoms of Sandhoff disease usually begin in infancy, typically including motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), and cherry-red spots in the eyes.
Cause
Sandhoff disease is caused by mutations in the HEXA and HEXB genes. These genes provide instructions for making the alpha and beta subunits of the beta-hexosaminidase enzymes, respectively. Mutations in either of these genes disrupt the activity of these enzymes, preventing the breakdown of GM2 gangliosides.
Diagnosis
Diagnosis of Sandhoff disease is based on clinical examination, identification of characteristic symptoms, detailed patient history, and a variety of specialized tests including enzyme assays and genetic testing.
Treatment
There is currently no cure for Sandhoff disease. Treatment is symptomatic and supportive. Physical therapy may help to improve muscle tone and enhance quality of life. Anticonvulsant medications may be used to control seizures.
Prognosis
The prognosis for individuals with Sandhoff disease is poor. Most individuals with the condition do not survive past early childhood due to the progressive neurological deterioration.
See also
External links
- Medical encyclopedia article on Sandhoff disease
- Wikipedia's article - Sandhoff disease
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