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Dancing eyes and giant feet - day of rare diseases

Dancing eyes and giant feet - day of rare diseases


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Rare diseases: Therapy is often lacking

The 28th is used globally to point out people who suffer from these diseases: their ailments are often little researched, but drugs are hardly developed. Often, not even doctors know about it and misdiagnose it.

When is an illness considered rare?

The EU defines a disease as rare if it affects five or fewer out of 10,000 people. Since there are many and very different diseases, the total number of people affected by such ailments is large - there are around four million people in Germany and around 30 million in the EU.

What do rare diseases have in common?

As different as they are, rare diseases usually have in common that they are chronic. They are also very often associated with disability, shorten life expectancy and often the symptoms begin in childhood. Not all, but at least 80 percent of the rare ailments are also genetically predisposed.

Which groups of diseases are rare?

Genetic disorders are almost always rare. Conversely, not all rare diseases are genetic. They also include certain autoimmune diseases, some cancers and rare infections.

In both children and adults

In many (but not all) rare plagues, symptoms appear shortly after birth or in childhood. Examples include nerve and muscle disorders such as neurofibromatosis or proximal spinal muscle atrophy. More than half of the rare phenomena only show up in adulthood - including Crohn's disease, Kaposi's sarcoma or Huntington's disease.

Medical-political problems

Rare diseases affect very few people. That is why they are of little economic interest for politics or for the economy (pharmaceutical industry). Even scientists rarely missed these rarities. The result is that, until recently, there has been no adequate health policy or research. Medical and scientific knowledge is still insufficient today.

How is the situation today?

There are no effective therapies for the majority of rare diseases, but care can increase the quality and life expectancy of those affected. There is currently a lot going on in research - and the treatment of some of these conditions has progressed in recent years.

Problems for patients

Doctors often make the diagnosis wrong or not at all because they have little information about it. Sick people lack social and medical support from hospitals and general practitioners, which could enable those affected to do regular work and integrate socially. Many patients suffer from psychological, social, economic and cultural difficulties that can be remedied.

No diagnosis, no support

Many sufferers do not get a diagnosis at all because doctors do not recognize their illness. They probably suffer the most, because without diagnosis they receive no support.

Is there any improvement in sight?

A center for rare diseases was opened in 2011. A lot has happened diagnostically: today, hundreds of rare diseases can be detected by biological tests. For some of them there are registers that show the course of the disease. Changed laws in many European countries are promoting measures to combat this suffering.

Where can the measures against rare diseases be viewed?

The European Union Committee of Experts on Rare Diseases provides information. How the countries of Europe want to get a grip on rare diseases can be read on the website of the European Commission.

Research problems

Rare diseases make it difficult to research them scientifically because they are rare. This means that there are only a few affected people who live far apart - a hurdle for studies. At the same time, there are only a few researchers who are working specifically on one of these diseases and could create such studies.

A challenge

The rarity of each disease means a special challenge for everyone involved: for those affected, relatives, medical staff, therapy and care.

Orphan drugs

Medically, rare diseases are called orphans, orphans, because they are the “orphans” of medicine. Medicines for these diseases are of no economic interest, so there are national laws to promote their development. For example, companies that produce them get privileges to approve and market them.

For example acromegaly

Some rare diseases are also bizarre diseases. In the case of acromegaly, the hands and feet (acre) enlarge. In a few years, feet will grow rapidly, as will fingers and hands. Because of the extreme growth, those affected hurt their joints, they sweat profusely. The tissues of the soft parts and the bones grow, on the limbs as well as on the face. The sufferers have plump lips, their noses look swollen, the face forms a forehead bump, the tongue grows so much that the language of those affected is often difficult to understand. Increased blood pressure and disturbed sugar metabolism are added. Due to the growth in the nose and throat, breathing temporarily stops during sleep. Until now, the disease can only be treated surgically and belongs in the hands of experienced neurosurgeons.

For example the "Dancing Eye Syndrome"

Dancing Eyes - Dancing Feet Syndrome, in German Kinsbourne syndrome, occurs as a result of certain tumors, for example in broncial carcinoma, in children with a neuroblastoma. In children who suffer from the disease, the eyes move uncontrollably, as do the limbs. One guess is that it is initially a body's defense against the tumor - however, the antibodies also damage the nervous system.

For example, the Kabuki syndrome

This phenomenon takes its name from traditional theater in Japan. The facial expression of those affected allegedly resembles the make-up of the actors. This expression is determined in the disease by malformations of the ear cups and eyelids, high eyebrows, long eyelashes and a sunken tip of the nose. Sufferers often have congenital heart defects, anomalies in the bone structure such as bent spine on the side or bent limbs. Symptoms include seizures, blurred vision, and hearing loss. (Dr. Utz Anhalt)

Author and source information


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Comments:

  1. Oswald

    There is something in this. Thank you for your help in this matter, the simpler the better ...

  2. Pit

    Thanks for the news! I was just thinking about it! By the way, Happy New Year to all of you;)

  3. Lancdon

    Yes



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