Browsing: Rare Diseases
The 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.
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.
The actual cause of Castleman’s disease is unknown. Patients should be aware of its symptoms and be open to discuss about them with their doctors. Before you seek a doctor appointment, you should consider knowing about a few things. Here are some helpful tips for preparing to meet a doctor.
Macular Degeneration or Age-related Macular Degeneration (AMD) is a common eye problem in which macula damages and does not function properly. It is the most common cause of loss of vision seen in older people. Age-related macular degeneration is related to aging in which sharp central vision is destroyed slowly.
Visual Aids (vision aids) for Macular Degeneration are manufactured in such a way that it becomes convenient for a patient to use it autonomously and enjoy the quality of life. These aids are optical devices which improve vision by the magnification of images.
Duchene muscular dystrophy (DMD) is an inherited progressive form of muscular dystrophy. It causes muscle degeneration or atrophy (of skeletal and heart muscles) and results in weakness. Muscle weakness may begin at an age of 3 or 4 years in the pelvic area, hips or legs, and shoulders.
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.
The condition, Macular Degeneration, has 3 stages. In the early stage, about 20% patients only develop an active neurovascular form. This stage changes to atrophic macular degeneration and later to neovascular macular degeneration which means it worsens slowly and gradually. The condition has no permanent and absolute cure.