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Pompe disease
Glycogen storage disease type II or acid maltase deficiency is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. Infantile-onset form is usually diagnosed at 4-8 months; muscles appear normal but are limp and weak preventing them from lifting their head or rolling over. As the disease progresses heart muscles thicken and progressively fail. Without treatment death usually occurs due to heart failure and respiratory weakness.
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- Part of Speech: proper noun
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- Industry/Domain: Health care
- Category: Incurable diseases
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