Browsing: Rare Diseases

Rare DiseasesThe page provides quick access to a list of common rare and neglected diseases, syndromes, health conditions, and other topics of health importance. The list is organized alphabetically. Links are provided to respective diseases sections that serve as a comprehensive and ultimate guide about the disease or health condition.

According to the World Health Organization (WHO), rare diseases are defined as lifelong disease or disorder which has a prevalence of 1 or less in a population of 1000 people. In the United States, a prevalence of less than 200,000 cases indicates a medical condition to be rare. Rare diseases are also referred as orphan diseases as various drug companies do not want to develop any treatment or medication for it.

Majority of rare diseases occur due to genetic mutations in genes or chromosomes of an individual. Some cases have been reported where rare diseases occur due to an infection or due to rare cancers or autoimmune diseases. These autoimmune diseases do not have any inheritable significance.

Most rare diseases cannot be cured and lead to death of an individual or shortened life expectancy. Till date, all aspects of a rare disease have not been fully identified and understood by scientists, therefore, it is difficult to diagnose, treat and prevent occurrence of such diseases.

Some common rare diseases which have a widespread occurrence are acquired hemophilia, alkaptonuria, alpha and beta thalassemia, cystic fibrosis, Duchene muscular dystrophy, stargardt disease, sickle cell disease, nipah virus infection etc.

There is no such theory that formation of amyloids can be reduced with an increase in physical activity but exercising has been found to be beneficial in many patients. Cardiac amyloidosis (amyloid deposits in the heart) patients should do limited and light exercises.

Kidneys are usually the first organs affected by amyloidosis. Accumulation of amyloid protein results in the formation of solid deposits that can stick in our kidneys. Unlike other types of excretory wastes, our kidneys are unable to easily excrete these deposits through urine.

Risk factors of amyloidosis include age, chronic inflammatory conditions, family history, multiple myeloma, and chronic kidney diseases. Some people with a large number of risk factors never develop amyloidosis, while others with no known risk factors develop the disease.

Amyloidosis is a rare disease that occurs when a substance called amyloid builds up in the body. It can affect your heart, kidneys, spleen, liver, nervous system, digestive system. There is no cure for amyloidosis. The treatment depends on the type of amyloidosis and the organs involved.

Macular degeneration is hereditary and it runs in families. It means the risk of developing the disease increases if someone in the family has it. This suggests that there are certain genes which when passed through families increase the chances of developing the disease. Hereditary degeneration mostly affects children and young adults.

Castleman’s disease is supposed to be a group of disorders with a wide range of common symptoms. This disease results in the enlargement of lymph nodes and can cause lymphoma if not treated on time. Treatment of Castleman’s disease is dependent on its sub-types.