Pompe disease

Symptoms

Is there an unusual symptom of Pompe disease?

Pompe disease causes weakness in the muscles used for moving the body, breathing, and swallowing. Sometimes the muscles of the heart are also affected. In newborns, the muscle weakness can be mistaken for other diseases that cause muscle weakness, but these other conditions usually do not cause a larger than normal heart with an enlarged left ventricle (one of the four chambers of the heart). Babies with infantile onset Pompe disease usually have a tell-tale sign on the electrocardiogram (EKG or ECG, a reading of the heart's electrical activity) of their heart called a shortened P-R interval. In babies with muscle weakness and a large heart, Pompe disease should be one of the first things that the doctors test for.

Babies with Pompe disease are often diagnosed based upon the symptoms seen at birth, but later onset Pompe disease may be more difficult to diagnose because the symptoms are more general. The best person to help figure out if someone has Pompe disease is their main doctor, who can then order testing or make referrals to the appropriate specialists.

Pompe disease on Gene Reviews

Lisi EC, Cohn RD. Genetic evaluation of the pediatric patient with hypotonia: perspective from ahypotonia specialty clinic and review of the literature. Dev Med Child Neurol. 2011 Jul;53(7):586-99.

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