Pompe Disease (Late-Onset)
Description
Late-onset Pompe disease is a rare genetic disorder that affects muscle function. It‘s caused by a deficiency in the enzyme acid alpha-glucosidase, leading to the buildup of glycogen in muscle cells. Unlike the infantile form, late-onset Pompe disease typically manifests in adulthood, affecting individuals differently. This blog post delves into the intricacies of late-onset Pompe disease, covering its symptoms, causes, diagnosis, and management options, as well as the importance of early intervention for optimal outcomes.
Genes Involved
Late-onset Pompe disease is caused by mutations in the GAA gene, which provides instructions for producing the enzyme acid alpha-glucosidase. Defective GAA genes lead to reduced or absent enzyme activity, causing glycogen accumulation in muscle cells.
Recognizing the Signs and Symptoms
Symptoms of late-onset Pompe disease vary widely and can develop gradually over time. Common signs include:
- Muscle weakness and fatigue: Particularly in the legs and hips, making activities like walking, climbing stairs, and standing for long periods difficult.
- Breathing difficulties: Due to weakened respiratory muscles, shortness of breath, and a persistent cough can occur.
- Back pain: As muscles in the back weaken, individuals may experience chronic pain.
- Difficulty swallowing: This is due to weakened muscles in the throat and esophagus.
- Delayed muscle recovery: After exercise or exertion, muscles may take longer than usual to regain their strength.
It‘s crucial to note that these symptoms can mimic other conditions, so a comprehensive evaluation by a healthcare professional is essential for accurate diagnosis.
Causes
Late-onset Pompe disease is caused by inherited mutations in the GAA gene. These mutations prevent the body from producing enough of the enzyme acid alpha-glucosidase, which is crucial for breaking down glycogen. This buildup of glycogen in muscle cells leads to muscle weakness and other symptoms. Individuals inherit two copies of the GAA gene, one from each parent. If an individual inherits two copies of the mutated gene, they will develop Pompe disease. If they inherit one mutated gene and one normal gene, they are considered carriers and may not experience symptoms but can pass the mutated gene to their children.
Inheritance/recurrence risk
Late-onset Pompe disease is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Individuals who inherit one mutated gene and one normal gene are carriers and do not typically experience symptoms. However, they can pass the mutated gene to their children. The risk of inheriting late-onset Pompe disease from carrier parents is 25% for each pregnancy.
