Corina from Suhl: Fulfill your last wishes with a spoon list

Corina from Suhl: Fulfill your last wishes with a spoon list

Corina Meyer from Suhl has a remarkable will to live despite her serious illness. The 29-year-old suffers from a rare genetic mutation, known as Ryr1 mutation, which leads to an illness that goes hand in hand with muscle weakness and restricted movement. But instead of getting her down by her illness, she has created a "spoon list". This term comes from the phrase "hand in the spoon", which describes death. With this list, Corina fulfills her last wishes, developing smart ideas to facilitate everyday activities that are difficult for her due to her illness. in Süddthüringen despite all the challenges realized.

The Ryr1 mutation is not only a personal fate for Corina, but also belongs to a larger group of diseases, the so-called Ryanodine Receptor 1 Related Myopathies (Ryr1-RM). These myopathies are congenital muscle diseases that are characterized by mutations in the Ryanodine receptor calcium channel in the sarcoplasmic reticulum. According to Researchers'’s Hospital are the most common form of non-dystystation Muscle diseases and include symptoms such as skeletal element, proximal muscle weakness and respiratory muscle weakness. The challenges that this disease entails are immense, since it often occurs in early childhood and expresses itself in a variety of symptoms.

scientific background

The Ryanodine receptor plays a central role in the connection between motor nerve signals and muscle contractions. When a membrane potential reaches the dihydropyridin receptor, the Ryanodine channel opens and enables the release of calcium. These complex processes are crucial for muscle activity and explain why mutations in the Ryr1 gene can lead to such serious restrictions. A total of over 700 gene variants were identified, which make the exact effects of Ryr1 mutations and the accompanying symptoms very variable. An article about myopathies emphasizes the progressive research that is currently being operated to better understand the mechanisms behind the Ryr1 activity and to develop effective treatments.

a ray of hope for the future