Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. What part of the cell does Gaucher disease affect?Read More →
Depending on where the noncancerous growths (benign tumors), develop and their size, they can cause severe or life-threatening complications in people with tuberous sclerosis. Can tuberous sclerosis be cured? Although there is no cure for tuberous sclerosis, treatment can help manage specific symptoms. For example: Medication. Anti-seizure medications may beRead More →
a tracheostomy. Usually air enters through the mouth and nose, goes through the windpipe and into the lungs. In cases with an injury or a blockage to the windpipe, a tracheostomy tube can bypass the damaged part of the windpipe and allow a person to continue to breathe on theirRead More →
Medical progress and better living conditions. Over the next few years the proportion of the world’s population aged over 60 will increase dramatically. The main reason why these people live to an advanced age is better medical care. Has the average life span increased or decreased? The average U.S. lifeRead More →
Familial dysautonomia is a lifelong condition that continues to present challenges as a child develops. Many children and adults with the condition have difficulty coordinating movement and walking, which can lead to frequent falls. How common is Riley Day syndrome? FD occurs most often in people of Eastern European JewishRead More →