Rare diseases affect more than 400 million people in the world

The rare diseases They are neurological in almost 50 percent. 20 percent of the cases of these rare pathologies correspond to neuromuscular diseases.

On World Rare Disease Day, the Spanish Society of Neurology (SEN) offers information about these pathologies.

Rare diseases: some data

Rare diseases have been described in more than 7,000 pathologies and around the world there are more than 400 million people who suffer from one.

65 percent of rare diseases are serious and disabling and, in almost 50% of cases, they affect the patient's vital prognosis. 85% are chronic. Only between 5 and 10 percent of these diseases have any curative treatment.

More than 35% of people with rare diseases show the first symptoms of their disease in childhood or adolescence.

It is considered that a disease is rare when it affects less than 1 in 2,000 people, although more than 80% of rare diseases that have been registered in the European database on rare diseases and orphan drugs (Orphanet) affect less than 1 person per million inhabitants .

Rare neurological diseases

Dr. Ángel Aledo Serrano, coordinator of the Neurogenetics and Rare Diseases Study Group of the SEN, highlights: “Of the 7,000 rare diseases described, almost 50% are neurological diseases and, among those that are not, it is common for develop some type of neurological symptoms.”

“Rare neurological diseases are rare diseases that affect the nervous system and are generally genetic, degenerative and tend to be chronic, serious and disabling or even put the lives of patients at risk,” explains Dr. Aledo.

Symptoms vary considerably depending on the specific disorder, but movement problems, loss of cognitive functions, muscle weakness, coordination problems, epileptic seizures or sensory problems, among others, are common, according to the Spanish Society of Neurology.

90 percent of rare pediatric diseases have relevant neurological manifestations. These pathologies are responsible for 35% of deaths in children under one year of age and more than 10% of deaths between 1 and 15 years of age.

The European Reference Network on Rare Diseases (ERN-RND) estimates that more than 60% of Europeans suffering from a rare neurological disease have not yet been diagnosed.

Impact on the quality of life of patients and their families

Dr. Aledo remarks: “Along with its high mortality, the neurological diseases Rare cases also tend to have a significant impact on the quality of life of patients and their families. Physical, cognitive and emotional limitations can affect daily activities, but also personal relationships and the ability to work.

In Spain, adds the SEN neurologist, 75% of those affected by a rare disease have some degree of dependency and more than 50% require support in their daily life.

Dr. Aledo calls for promoting reference centers for these pathologies and specific training for health professionals to reduce the delay in diagnosis. He also proposes the introduction of genomics for diagnosis, since 80% of rare diseases are of genetic origin.

(With information from EFE)

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