- Progressive weakness in the legs and trunk.
- Increasing difficulty walking.
- Muscle pain over a large area.
- Loss of the ability to exercise.
- Frequent falls.
- Recurrent respiratory infections.
- Shortness of breath (dyspnea) with exertion.
- Morning headaches.
- Daytime fatigue.
- Unintentional weight loss.
- Difficulty swallowing (dysphagia).
- Irregular heartbeat (arrhythmia).
- Increased difficulty hearing.
Causes of Pompe Disease
Pompe disease is caused by mutations in the GAA gene, which is responsible for producing the enzyme acid alpha-glucosidase. This enzyme plays a crucial role in breaking down glycogen, a complex sugar that the body uses for energy.
When the enzyme is deficient or absent, glycogen accumulates in the lysosomes of cells, leading to severe muscle damage and the symptoms of Pompe disease.
Pompe disease is inherited in an autosomal recessive manner, meaning that both parents must pass on a copy of the mutated gene for the condition to develop. While carriers of the mutated gene do not typically show symptoms, they can pass the gene on to their children.
Diagnosis and Treatment
Diagnosing Pompe disease involves a series of tests, including physical exams, family history assessments, blood tests, and genetic testing. Treatment focuses on enzyme replacement therapy (ERT) to help manage symptoms and improve quality of life.
Additionally, supportive care from a team of specialists, such as physical therapists and cardiologists, can be beneficial.
Conclusion
Living with Pompe disease can be challenging, but with the right understanding and support, individuals can manage the condition effectively. By raising awareness and providing compassionate care, we can help those affected by Pompe disease live their lives to the fullest.