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Rare diseases

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Bernice Clark ▼ | July 8, 2009
damaged boneRare diseases are characterised by a diversity of symptoms and disorders which vary not only from a one disease to another, but also inside the same disease. The patients who suffer from the same disease can have different clinical pictures.


The first symptoms of rare diseases appear in different ages. So, there are no rules in that, too. Most of the patients will have first symptoms from the day of birth or in early childhood, while some of the diseases are specific for adults.

There is also a third possibility when first symptoms appear in childhood and the disease develops in later ages. Also, the symptoms which are similar to the symptoms of some frequent and well-known disease can mask a rare disease. A combination of different symptoms may contribute to wrong diagnosis.

Some 3 to 4 percent of the new born babies suffer from rare diseases. Almost 80 percent of rare diseases have known genetic origin. They can be inherited or developed because of gene mutations or abnormality of a chromosome. Some diseases are still mysteries for doctors, mostly because of lack of scientific researches.

Epidermolysis bullosa is a group of skin conditions whose hallmark are painful blisters which look like burn. They appear as response to minor injury, heat, or friction from rubbing or scratching. There are three main types of epidermolysis bullosa, with numerous subtypes of which most are inherited.

Mucopolysaccharidoses are inherited disorders of metabolism caused by lack of one or more specific lysosomal enzymes. In healthy people fat and sugar are continuously synthesized and deconstructed, depending on organism needs. Children born with mucopolysaccharidoses are not able to generate one of the life important enzymes which disintegrate complex sugar or fats. The lack of the enzyme causes the accumulation of different biomolecules inside lysosome where is the natural place for them to be disintegrated.

Accumulation of biomolecules leads to expansion and destruction of lysosome, something similar to a balloon which bursts if we blow it too much. Children with mucopolysaccharidoses have characteristic look of the head, prominence of tongue, nose and lips, and shorten neck. There are eight types of the disease.

Niemann-Pick disease primarily affects children, although it can occur later in life. The Niemann-Pick diseases affect the body's ability to metabolize fats (lipids) within cells. It mainly affects brain, liver, spleen, bone marrow and the lungs in severe cases. There are six types of the disease.

Osteogenesis imperfecta is a genetic disorder characterized by bones which break easily, often with little or no apparent cause. Severe body deformations, hearing problems, tinted white of the eyes, respiratory problems and brittle teeth are just some of the complications that follow the disease. The characteristic features of osteogenesis imperfecta vary greatly from person to person, and even among people with the same type of the disease. There are eight types of the disease.

Prader-Willi syndrome is caused by lack of genetic material on chromosome 15. As the result, the key feature of Prader-Willi syndrome is a constant sense of hunger. Children with Prader-Willi syndrome have short stature, small hands and feet, obesity, a defect of the reproductive system, and mild mental retardation.

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