Sanofi-Aventis Germany GmbH
Frankfurt/Main (ots)
Muscles store energy, generate power and give strength [1]. But what if they can no longer fulfill these functions? People with Pompe disease have less muscle strength due to a congenital gene defect [2]. Your muscles – and therefore your entire body – are getting weaker and weaker [2]. In addition, Pompe disease is one of the rare diseases and those affected often wait years for their diagnosis because other diseases can also be behind these symptoms [3]. During this time, the disease continues to progress [2]. On the occasion of this year’s International Pompe Day on April 15, Sanofi calls for information about the clinical picture and to demonstrate solidarity: Let’s stand up together! For people who lack the strength to do so. For people with Pompe disease.
When the muscles lack energy
The human body is made up of more than 600 muscles [4]. Above all, three types of muscles are distinguished: The smooth muscles, which are found in hollow organs such as e.g. B. can be found in the stomach, as well as the heart muscles are controlled by the body without our intervention – the skeletal muscles, on the other hand, are responsible for the active body movements [5].
The muscle cells obtain their energy from the sugar stored as glycogen [1]. In the case of Pompe disease, this process does not work as it should: A congenital defect in the alpha-glucosidase gene means that the activity of the enzyme acid alpha-1,4-glucosidase (GAA) is reduced or absent at all [2]. This enzyme is responsible for breaking down glycogen – but cannot do its job properly in this condition [2]. As a result, glycogen accumulates primarily in the so-called lysosomes of the muscle cells [6]. This affects muscle tissue and can lead to a variety of symptoms [2,6].
When the disease affects life
Pompe disease can appear at different times in life – in childhood or adulthood – and in different forms and severity [2,6]. Symptoms can be severe and affect people’s everyday lives [7]. The progressive muscle weakness primarily affects the legs and hips, so that those affected feel pain and find it difficult to climb stairs, walk and stand up [2,7]. Pompe disease patient Juan reports how the disease manifested itself in him: “Since I was eight years old I suffered from joint and muscle stiffness – and from pain. As I got older it got worse and worse. I felt an increasing weakness in my core muscles and my arms and legs.”
The respiratory muscles are often affected as the disease progresses. This affects sleep, especially in the beginning. Those affected do not sleep as deeply, suffer from severe fatigue and headaches [2,7]. Difficulty chewing and swallowing can result in people with Pompe disease not getting enough nutrients [8].
More knowledge makes the difference
A condition is considered rare if it affects no more than one person in 2,000 – Pompe disease falls into this category [2,9]. In addition, the symptoms of the disease are widely diversified and it can be difficult for those affected and often also for doctors to clearly assign them [6]. As a result, patients often have to wait years for their diagnosis [3]. So did Juan: “After numerous tests and 18 years of misdiagnosis, I was finally diagnosed with Pompe disease at the age of 41.” But he wants to encourage other sufferers: “Pompe’s disease can be debilitating. Part of my experience and my outlook on life is that I have to change faster than other people and adapt to it. The good thing about it is that it encourages me to help everyone to really experience the moment.”
Knowledge about rare diseases can make a difference – for those affected, for doctors, for society. And each individual can make a contribution. Sanofi is marking International Pompe Days to launch the Stand Up! For Pompe Disease campaign to show that everyone can do something. Standing up for Pompe disease means standing up for yourself – for more knowledge, for helpful support, for the people who live with the disease!
Do you think …? Find here the experiences of Juan in the video and here everything about the action!
Credentials:
- Adeva-Andany MM et al. BBA Clin 2016; 5:85-100.
- Taverna S et al. Aging (Albany NY) 2020; 12(15):15856-15874.
- Lagler FB et al. JIMD Rep 2019; 49(1):89-95.
- Stewart G, Cooley DA. In: The skeletal and muscular systems. 2009; New York: Chelsea House.
- Noto RE et al. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Available at: [Letzter Zugriff: 05.04.2023].
- Kishnani PS et al. Genet Med 2006; 8(5):267-288.
- Gungor D et al. J Inherit Metab Dis 2016; 39(2):253-260.
- Cupler EJ et al. Muscle Nerve 2012; 45(3):319-333.
- European Commission. Rare Diseases. Available under: [Letzter Zugriff: 05.04.2023].
MAT-DE-2301498-1.0-04/2023
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Original content from: Sanofi-Aventis Deutschland GmbH, transmitted by news aktuell