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Overview
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Conditions
Inherited metabolic disorders
Pompe disease

Pompe disease

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Is glycogen storage disease type 2. Is an autosomal recessive metabolic disorder with muscle & nerve cell damage, leading to muscle weakness & myopathy throughout the body.

Dr. Alan Ali reviewed this

34 year experience in Psychiatry

How long it usually lasts:

Chronic (lasts years to lifelong)

Symptoms

Difficulty swallowing
Breathing difficulty
Swollen tongue
Low muscle tone
Muscle weakness
Load more

Medications

Ratings show how effective doctors think these medications are at treating Pompe disease
Alglucosidase alfa
5
1 review
Myozyme
Lumizyme

Other treatments

Occupational therapy
Physical therapy
Genetic counseling

Tests

Liver function test
Creatine kinase
Electrocardiogram

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