Muscular dystrophy comprises of a group of illnesses of the muscles. These lead to muscle weakness and to a breakdown of the essential skeletal muscles. The disease can be diagnosed with help of a muscle biopsy.
A muscular dystrophy is generally caused by a hereditary disease, which leads to a progressive weakening of muscles. The typical forms of the muscle loss are the ones of the type Duchenne and Becker. Muscular dystrophy affects predominantly the muscles of the thigh, the pelvis and the shoulder. However also other muscles as an example the ones of the heart can be affected.
Muscular dystrophies are generally inherited and affect one in 5'000 primarily boys, in rare cases muscular dystrophies can also develop after a spontaneous mutation. Cause of the condition is the lack of proteins, which are necessary for the muscular metabolism. The gene defect mostly leads already at birth to a situation where these proteins are not available or only in a too low amount. With the two most common prevalent types Duchenne and Becker there is a lack of the dystrophin protein. It can usually be found in the muscle fiber membrane. When it lacks, it leads to a collapse of the muscle cell due to instabilities in the structure. This again leads to muscular weakness and ultimately to a muscle loss in the affected area.
Besides a muscle loss it leads also to a deformation of bones and to deformities of the joints, which impair ordinary movements. For this reason, a suspicion for a muscular dystrophy diagnosis persists, when children show uncommon muscular weakness and problems with movement. A final diagnosis can be made in a first step with laboratory tests and ultimately with a muscle biopsy. In this particular case one can detect an increase of creatine kinase and lactate dehydrogenase in the blood. Due to the muscle cell destruction it comes to a release of these enzymes, which occur in the skeletal and heart muscles. A muscle biopsy can provide the evidence with help of tissue removal from the affected muscles. A treatment targets to a relief of the symptoms and to a preservation of the important functions of the affected muscles as long as possible.
Several years of work in academia, medical practice and finally commercialization make it possible to provide an end-to-end process to help users to “find the appropriate medical help based on their present symptoms”. Below you will find a short explanation, showing you which part of the platform will help you best in finding the appropriate medical support.
Proceed as follows to enter your current symptoms.
Click on the appropriate body part on the picture. Select one/multiple symptoms corresponding to your complaint.
You can also add symptoms by typing your medical complaint in the search box and selecting the best matching suggestion.
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Once you have selected all applicable symptoms, click the “analyze disease pattern”-button.
Accordingly, you will get a list of possible diseases and matching doctor categories who can further help you.
You can inform yourself about the possible diseases by reading the related information. But you can also return to the previous step and add more symptoms or delete already added ones to further narrow down your disease pattern.
Click on the desired doctor category to find a doctor who can help you.
If you are logged in with your profile, you will be displayed the appropriate doctors in your area. Otherwise you can enter an address in the “address” field and you will be displayed a doctor’s list around that specified address.
You will receive further information about the displayed doctors when you press on “details”.
Online bookable doctors in your area will be indicated with the notation “Book appointment” or “Book externally”, additionally they will be displayed on top of the list for your convenience.
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Please select an available appointment. “Green“ appointments are booked directly. “Red“ appointments need to be confirmed by the doctor.
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