Disease
Living with a rare disease
The last day in February, the day of rare diseases. Some reduce life expectancy by decades. Approximately 8000 rare diseases there are in the world – we describe the five.
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Who can help with unexplained symptoms?
Hemophilia: The disease is one of the better-known rare diseases. It is a blood clotting disorder- the Affected person’s blood coagulates more slowly, or not at all. Is the disease is inherited through the X chromosome, which explains why the patients are usually male. Women have two X chromosomes. You can fill in case of a Defect, the healthy chromosome.
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They are the stepchildren of medicine: people with rare diseases. Even if there are relatively few hits, so diseases such as AS the back now, but more into the public consciousness. (28.02.2012)
Children dementia and early death Rates
First of all, the children lose the light in their eyes, then you can no longer run, no longer speak. It’s epileptic seizures, mental deterioration, you eat nothing and die follow – much too young. (14.07.2015)
Before there was effective treatment methods, the life expectancy of patients with hemophilia in only eleven years. Nowadays, the quality of life of those Affected is restricted only slightly and their life expectancy is on average ten years shorter than men without the disease.
Amyotrophic lateral sclerosis: ALS, or Lou Gehrig’s disease, is a degenerative disease of the motor nervous system, the muscle weakness in the entire body. Finally, the patients cannot control their muscle movements. The majority of Patients eventually die of failure to Breath. Stephen Hawking is a prominent carriers of this disease, but he is a rare case:
Most people have a period of three years between the outbreak of the disease and death. However, Hawking showed fifty years ago the first symptoms.
Alström syndrome: children with this diagnosis are suffering early obesity. In the result, they often develop heart problems and be with a probability of 100 percent blind. Worldwide, about 500 people have this disease. The Alström syndrome is recessively inherited. So far, there is no hope for a cure. The life expectancy of those Affected is short – most die as young adults.
Tuberous sclerosis (TSC): the cause of this disease are changes in the genome. You can lead to the cells of the body multiply in an uncontrolled manner. The TSC arise-typical – but mostly benign – tumours. The patients suffer from Tissue growths and malformations of almost all organs. Most frequently the brain and the skin are affected.
This causes developmental delays and leads to different types of impairments. The patients suffering from it their whole life. Currently, the TLC can not be cured, but there are always more ways to alleviate the symptoms. The disease occurs in ten to 16 births of 100,000.
Mucopolysaccharidosis (MPS): There are seven different types of metabolic disorders, the Lack or the malfunction of a particular enzyme. Depending on the type of Mucopolysaccharidosis, patients suffer from constant pain, impaired motor skills, cognitive impairment, or severe behavioural disorders.
It can also skin thickened, dwarfism or excessive body hair can occur. The disease occurs even under 50,000 to 280,000 people. There is currently no really useful therapy; the treatment is designed to improve the quality of life of the patients.