Infantile-onset Pompe disease (IOPD) has a wide disease spectrum with varying organ involvement and degree of muscle impairment.
Although an IOPD diagnosis can be devastating, early detection, appropriate disease management, and supportive care may help overcome some of the challenges that this disorder presents to both the infant and the caregiver.
In IOPD, the symptoms arise within the first few months of life. A suspicion of IOPD usually occurs due to the presence of an abnormal enlarged heart (cardiomegaly) and low muscle tone (hypotonia). It is also characterized by an unusually large tongue (macroglossia) and enlargement of the liver (hepatomegaly). Rapidly progressive muscle weakness, including the muscles necessary for breathing, and advancing cardiomegaly, are expected during the clinical course of this disease, and can result in heart and respiratory failure before 1 to 2 years of age.
There are also patients who present with signs and symptoms in infancy without the classic cardiac features of IOPD.
After a baby has been diagnosed with IOPD the interval for clinical follow-ups and management strategy should be individualized, and frequent visits to healthcare providers should be expected. Furthermore, because this disorder affects multiple organs and body systems, IOPD is usually managed by a lead doctor who has experience with this disorder, and a supporting multidisciplinary team. A care team for an infant with IOPD may include:
It’s recommended that health care professionals who are part of the IOPD multidisciplinary care team have a full understanding of the disease, including the broad spectrum of signs, symptoms, and challenges that arise from them. Additionally, it is recommended that members of the care team understand the psychological and emotional impact of this disorder on infants, their families and caregivers.
As previously discussed, continuous monitoring of multiple parts of the body of your child with IOPD should be expected. Your child’s comprehensive care team may perform many of the recommended tests and assessments illustrated below based on clinical judgement.
Patient Monitoring of:
General Patient Monitoring
A test that visualizes the heart to determine its size and how well it’s beating
A test that examines the electrical activity of the heart
The following tests may be used to evaluate cognitive development
The following tests may be used to evaluate muscle function:
If a diagnosis is confirmed, your doctor may consider the Pompe Registry for your child.
Registries have proven to be especially valuable in gathering information and contributing to scientific publications for rare diseases like Pompe disease.
The Pompe Registry is sponsored and administered by Sanofi Genzyme Corporation. Information submitted to the Pompe Registry will be maintained as confidential.