What are the Symptoms of Pompe Disease?

What are the Symptoms of Pompe Disease?

Infantile form of Pompe disease:

Patients typically present during the first six months of life with weakness and loss of muscle tone. This results in respiratory and feeding difficulties. Respiratory and feeding difficulties may also be a manifestation of heart failure, which is due to abnormal enlargement of heart chambers (the chamber called Left Ventricle enlarges) and outflow obstructions.

Birth and family history are useful but not always helpful.

Juvenile form:

Patients typically present with delayed attainment of motor milestones (for example, child begins to walk at a late age), weakness and loss of muscle tone. Intelligence is not affected.

Adult form:

Patients often complain of difficulty with climbing stairs, which is due to proximal muscle weakness. Respiratory symptoms are not uncommon.

Other symptoms include:

• Difficulty during exercise
• Orthopnea: Person can breathe comfortably only when standing or sitting erect
• Somnolence: Excessive sleep

• Headache at night or upon waking.

References:

1. Harrison�s Principles of Internal Medicine 18^th Edition
2. The Merck Manual
3. Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. Sep 1999;7(6):713-6
4. Merk T, Wibmer T, Schumann C, Kr�ger S. Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. Eur J Neurol. Feb 2009;16(2):274-7.

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