Rare Disease Spotlight: Gaucher Disease

Rebekah Harrison

Gaucher disease is an inherited genetic disorder that affects many of the body's organs and tissues. There are a few forms of Gaucher.
Type 1, also called non-neuronopathic Gaucher disease because the brain and spinal cord are usually not affected. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system but it tends to worsen more slowly than type 2.
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population however it is fairly common in certain populations such as Ashkenazi Jews.

Signs and Symptoms

               Type I: impaired olfaction and cognition
               Type II: serious convulsions, hypertonia, mental retardation, and    
               Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia


Treatment Options

 Medical Therapy



The National Gaucher Foundation has a mentor program that connects people who have the disease. To find out more, you can visit its website.
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