Pompe disease resource

June 2017

General Practitioners

Country of origin: USA

A website has been launched by Genzyme to offer in-depth information about Pompe disease, a rare and debilitating illness. The site, entitled Pompe Community, also offers resources and support to help manage challenges associated with the disease.

Dutch physician J.C. Pompe first described an infant with the disorder in 1932. In honor of his discovery, the disease carries his name today.Pompe disease (pronounced "pom-PAY" in the United States or "POM-puh" in Europe) is a rare neuromuscular genetic disorder that occurs in babies, children, and adults who inherit a defective gene from their parents.

Progressive muscle weakness is the most common symptom of both the infantile-onset and the late-onset forms of Pompe disease.

Diagnosing Pompe disease can be challenging because many of the symptoms are similar to those of other diseases. In addition, symptoms often develop slowly and may not show up at the same time.

In most cases, health care providers have to rule out other more common possible causes before considering a diagnosis of Pompe disease. It may be easier to diagnose the infantile-onset form of Pompe disease because the rapid progression and more pronounced symptoms may prompt health care providers to perform more extensive testing. Older patients may initially complain of muscle weakness, fatigue, or breathing problems, which can be symptoms of other disorders

Late-onset cases tend to be more challenging to diagnose, and the road to an accurate or definitive diagnosis can be frustrating. Not only do the number, severity, and type of symptoms a patient experiences vary widely, but also the symptoms may suggest more common disorders, such as the different types of muscular dystrophy.

Given how rare the disease is, many physicians may not have encountered a patient with Pompe disease before. Because of this, physicians may need to first rule out other possible causes before beginning to consider a disorder as rare as Pompe disease.

If a patient reports only breathing problems or muscle weakness-Pompe disease may be overlooked and the patient may receive another diagnosis, such as limb-girdle, spinal muscular atrophy I, or Becker/Duchenne muscular dystrophy.

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