Living with Pompe disease can be challenging, particularly for Black individuals who may face unique experiences and challenges. However, understanding this condition and its impact is crucial for everyone affected. Let’s explore Pompe disease together, with a focus on its causes, symptoms, diagnosis, and treatment options.
What is Pompe Disease?
Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder where glycogen, a complex sugar, builds up in the body’s cells due to a deficiency of the enzyme acid alpha-glucosidase (GAA). This buildup occurs in the lysosomes, affecting organs and tissues, especially the heart and skeletal muscles.
Types of Pompe Disease
There are two main types of Pompe disease, each varying in onset and severity:
Infantile-onset: This type affects infants severely, with symptoms usually appearing within the first year of life. It can lead to severe muscle weakness, and an enlarged liver and heart. If left untreated, it can be fatal within the first few years of life.
Late-onset: Symptoms can appear at any age, ranging from childhood to adulthood. While milder than the infantile form, it can still cause significant muscle weakness and respiratory issues, affecting daily life and mobility.
How Common is Pompe Disease?
Pompe disease is considered rare, affecting about 1 in every 40,000 people in the United States. Despite its rarity, understanding its impact is crucial for those living with this condition.
Symptoms of Pompe Disease
Pompe disease manifests with progressive muscle weakness, primarily affecting the skeletal muscles in areas such as the hips, legs, shoulders, arms, and diaphragm. In infants, this can present as “floppy infant syndrome” (hypotonia). Additionally, individuals may experience enlargement of the heart (cardiomegaly), liver (hepatomegaly), and tongue (macroglossia).
For infants with Pompe disease, other symptoms may include:
- Difficulty gaining weight and growing at the expected rate (failure to thrive).
- Breathing difficulties.
- Feeding issues.
- Respiratory infections.
- Hearing problems.
On the other hand, symptoms of late-onset Pompe disease are typically milder and progress more slowly. However, they can still significantly impact daily life and include:
The Latest In Rare Disease
9 Things You Need For the Ultimate Pompe-Friendly Diet
Managing Pompe Disease in Black Children: 10 Tips for Parents
Tips for Monitoring Late-Onset Pompe Disease
The Day My Shoes Didn’t Fit: The Path to a Rare Disease Diagnosis
Inflammatory Breast Cancer Is Rare But Aggressive: Know the Signs
Cancer Survivor Beats Rare Cancer: “I Was Given 18 Months to Live”
Footer
Where Wellness & Culture Connect
BDO is the world’s largest and most comprehensive online health resource specifically targeted to African Americans. BDO understands that the uniqueness of Black culture - our heritage and our traditions - plays a role in our health. BDO gives you access to innovative new approaches to the health information you need in everyday language so you can break through the disparities, gain control and live your life to its fullest.
Copyright © 2024, BlackDoctor, Inc. All rights reserved.