Spinal Muscular Atrophy – SMA

Definition Spinal muscular atrophy (SMA) is one of the nerve-damaging diseases of the central nervous system (brain and spinal cord) and is hereditary. In the course of the disease, nerve cells and the muscles innervated by them are damaged. The disease is relatively rare and shows great variability. It can occur in the first months … Spinal Muscular Atrophy – SMA

Corneal Dystrophy

What is corneal dystrophy? Corneal dystrophies are a group of hereditary diseases of the cornea. It is a non-inflammatory disease that usually affects both eyes. In most cases, it manifests itself by a reduction in the transparency of the cornea and a deterioration in vision. Its peak age is between 10 and 50 years of … Corneal Dystrophy

How is the inheritance? | Corneal Dystrophy

How is the inheritance? Corneal dystrophies represent a group of different forms of disease, which in turn have different inherited characteristics. Depending on the mutation, they are inherited autosomal dominant, autosomal recessive or X-linked recessive. Affected patients can undergo genetic counseling, which can inform them about treatment and prognosis as well as further inheritance to … How is the inheritance? | Corneal Dystrophy

Familial Mediterranean fever

Familial Mediterranean fever is a genetic disorder associated with frequent fever attacks. The disease is classified as an auto-inflammatory disease because the immune system is activated independently of a pathogen and triggers inflammation. Overall, familial Mediterranean fever is a rare disease, but it is significantly more common in certain regions and population groups. This also … Familial Mediterranean fever

How to find a specialist? | Familial Mediterranean fever

How to find a specialist? The specialists who deal with familial Mediterranean fever are usually rheumatologists. In most cases, contact can be made directly through the family doctor, the pediatrician or the clinic. With own search the Internet search is recommended. In the Internet there are sides of self-help groups and information sides, which offer … How to find a specialist? | Familial Mediterranean fever