Pompe disease


Are there any other diseases that look a lot like Pompe Disease?

Infantile onset Pompe disease (IOPD) can be mistaken for other forms of muscle diseases that are present in newborns such as Spinal Muscular Atrophy (SMA), Congenital Disorders of Glycosylation (CDG), Congenital Muscular Dystrophy, Prader-Willi syndrome, or mitochondrial disease. Newborns with these conditions all have very weak muscles and may have breathing problems. They usually do not (but can) have very large hearts like in IOPD. Babies with Pompe disease also 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.

Late onset Pompe disease (LOPD) is often misdiagnosed as other forms of muscular dystrophies (diseases where muscles get weaker over time), most commonly Limb Girdle Muscular Dystrophy (LGMD) because the symptoms are very similar. In both LOPD and LGMD, affected people start having muscle weakness in the upper arms and upper legs so the way they walk can look similar. People with LOPD can also have abnormally high liver function blood tests (markers called AST and ALT) which get mistaken as liver disease. The abnormal blood test is actually caused by the muscles breaking down. It is important to make the right diagnosis of Pompe disease, because unlike some of these other conditions, treatment is available to help make the muscles stronger or at least slow down the rate at which the muscles grow weaker. 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

Preisler et al article (2013): "Pompe disease is prevalent in unclassified limb-girdle musculardystrophies" : http://www.ncbi.nlm.nih.gov/pubmed/24011652

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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