Navigating the Complexities of Rare Diseases: Understanding, Diagnosis, and Support
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A muscular rare disease affects the muscles of the body. This can be a weakening, irritability, or low muscle tone. This can also have a consequent impact on an individual’s physical development and ability. The body contains over 600 muscles, and muscles control every movement we make. There are three main types of muscles – […]
Rare Disease Day is held every year on the last day of February. It originally began as a European initiative in 2008 by EURODIS, and the Council of National Alliance, but has since spread to other countries, including the US which joined in 2009. In 2020, over 100 countries from around the world participated in […]
Degenerative diseases are those in which a breakdown in the cells of the body leads to a deterioration in how parts of the body function. These cell changes generally affect the tissue and organs of the body. Very often there are no treatments or cures for this degeneration, although therapies and treatments may be available […]
Rare diseases are not as common as individual syndromes in themselves. Some of them affect only a handful of people worldwide. Others, such as Down syndrome, are more prevalent and affect thousands of people. Generally, in the US, a rare disease affects less than 200,000 people. However, with 7000 currently diagnosed, and more being identified […]
Widely recognized as the most prevalent and most commonly diagnosed genetic disorder, Down syndrome is not an inherited genetic syndrome. It is caused by the presence of an extra copy, or extra partial copy, of Chromosome 21. It is also sometimes known as Trisomy 21. This duplication occurs spontaneously and is not inherited from either […]
There are many potential challenges when it comes to finding a rare disease specialist in a specific area or location. However new developments in virtual and online genetic counseling look set to address and remove most of these barriers head-on. A rare disease specialist may refer to one of any number of genetic experts, including […]
In recent years people with Ehlers-Danlos, a rare disease affecting mainly the connective tissue of the body, have adopted the moniker ‘zebras’, to refer to themselves and other individuals with the same diagnosis. The term is a play on a common phrase taught to medical students during their training – “When you hear the sound […]
By its very nature rare disease has an awareness issue. There are currently around 7,000 identified rare diseases, and many of them affect only a handful of patients in the world. When a disease affects only a few people, awareness about it is naturally limited, even among medical professionals. When awareness about a rare disease […]
There are around 7000 rare diseases identified worldwide. In the US a rare disease is defined as one which affects less than 200,000 people. This amounts to around 30 million Americans affected by a rare disease. Some rare diseases are the result of a single gene mutation, often known as single gene disorders, their uncomplicated […]