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Dictionary » Glycogenosis type 2

Glycogenosis type 2

Introduction: Glycogenosis type 2

Description of Glycogenosis type 2

Glycogenosis type 2 (medical condition): A rare inherited biochemical disorder involving the harmful...more »

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Glycogenosis type 2:
  »Introduction: Glycogenosis type 2
  »Symptoms of Glycogenosis type 2

Glycogenosis type 2: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE DEFICIENCY. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
Source: Diseases Database

Glycogenosis type 2: Related Topics

These medical condition or symptom topics may be relevant to medical information for Glycogenosis type 2:

Glycogenosis type 2 as a Disease

Glycogenosis type 2 (medical condition): See Glycogenosis type 2 (disease information).
  »Introduction: Glycogenosis type 2
  »Symptoms of Glycogenosis type 2

Glycogenosis type 2: Related Diseases

Glycogenosis type 2: Glycogenosis type 2 is listed as a type of (or associated with) the following medical conditions in our database:

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Source: Diseases Database

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Source: Diseases Database

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