MIAMI. – The World Day of Diseases Raras is celebrated on the last day of February. In 2024, because it is a leap year, the date is February 29. The anniversary seeks to provide guidance on these diseases and improve access to treatment and medical care for both patients and their families.
Rare diseases have the particularity that they occur in less than 5 people per 10 thousand inhabitants, in addition to being chronic, degenerative and disabling conditions. Most rare diseases have a genetic origin.
It is estimated that there are nearly 7,000 rare diseases, 50% of which are neurological, according to the Neurogenetics and Rare Diseases Study Group of the Spanish Society of Neurology.
In the case of rare neurological diseases, although the symptoms depend on the disorder the patient has, difficulties with movement, muscle weakness, loss of cognitive functions, as well as coordination and sensory problems have been documented.
Due to the rarity of these ailments, their diagnosis It is usually late. According to the Spanish Federation of Rare Diseases, “a patient with a rare disease waits an average of 4 years until obtaining a diagnosis, in 20% of cases 10 or more years pass until the appropriate diagnosis is achieved.”
Some rare diseases
Within the extensive list of rare diseases we can mention:
. Spina Bifida: A type of neural tube defect. It can appear anywhere along the spine if the neural tube does not close completely.
. Hemophilia: It is a disorder that causes the blood to not clot normally.
. Congenital Adrenal Hyperplasia: These are genetic conditions that limit the production of hormones in the adrenal glands.
– Turner Syndrome: It is a chromosomal disorder in which a woman is born with a single X chromosome.
. La Histiocytosis: It is a group of rare diseases in which too many histiocytes (type of white blood cell) accumulate in some tissues and organs,
. Congenital Hypothyroidism: It is characterized by the deficiency of thyroid hormones present at the birth.
. La Phenylketonuria: It is a rare inherited disorder, which causes an amino acid called phenylalanine to accumulate in the body.
. Amyotrophic lateral sclerosis (ALS): Is a disease in which nerve cells degrade and functionality in the muscles decreases.
@snederr
Source: Europa Press / International Day Portal / Spanish Federation of Rare Diseases
