So, how do you know if someone has Pompe disease? Well, the signs and symptoms of the disease actually varies from patient to patient. However, there are several general symptoms such as muscle weakness in arms and legs, muscles for breathing and the heart in infants.
For infants(infantile form) with Pompe disease, they have extreme muscle weakness and displays a "floppy" appearance. X-rays will usually show a greatly enlarged heart. Other common symptoms among infants include breathing difficulties, trouble feeding and failure to meet developmental milestones such as rolling over, and sitting up. This infantile form of the disease usually comes into medical attention within the first few months of life.
The usual symptoms that are displayed includes:
- cardiomegaly
- hypotonia
- cardiomyopathy
- respiratory distress
- muscle weakness
- feeding difficulties
- failure to develop (sitting, rolling)
- floppy appearance
Floppy appearance (http://www.pompesa.co.za/wmenu.php)
Certain facial features that are displayed also include macroglossia, whereby the patient's tongue is enlarged, mouth and eyes wide open and poor muscle tone.
For children and adults (the late onset form), they tend to display a greater variety of symptoms, including weakness of the leg and hip muscles, leading to mobility difficulties, and breathing difficulties. Older patients however, don't usually have the heart problems typical in infants. They have more prominent skeletal involvment, especially the lower limbs.
The more common features displayed includes:
- impaired cough
- recurrent chest infections
- hypotonia
- progressive muscle weakness
- delayed motor milestones
- difficulty in eating (swallowing & chewing)
So, this concludes the end of our post on the of symptoms Pompe disease. Feel free to ask any questions in the comments section (if you have any!)
Till next time!
Rose
References:
http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II#Signs_and_symptoms
http://www.pompe.com/patients/signs-symptoms.aspx
There are a few different types of glycogen storage diseases. So do they all have very similar symptoms? Or are they very different from one another?
ReplyDeleteHello ed! Thanks for your question :) Nope, even though there are a few different types of glycogen storage disease, each type of disease have a different target and thus the symptoms will be different. Some of the glycogen storage diseases however do share some similar symptoms such as muscle weakness. However some of the diseases may have some symptoms unique to that type of glycogen storage disease. Does that answer your question? :)
DeleteQuite interesting how amongst all the different types of GSE, the symptoms are more or less similar because of the inability to utilize glycogen, and most of the symptoms seem to be a result of the accumulation of glycogen. Who knew glycogen could be so destructive. I guess what they say about "having too much of a good thing is bad" is true haha.
ReplyDeleteHaha yes Glenn, when I first heard about Glycogen Storage Diseases I thought it would just cause discomfort, I didn't know it could be so life threatening until now.
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