Glycogen storage disease type II differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Differentiating Infantile Onset Glycogen Storage Disease Type II from other Diseases

• [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
• [Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

• As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].

Table Differentiating Infantile Onset Glycogen Storage Disease Type II from other Diseases

Diseases	History and Symptoms				Physical Examination				Laboratory Findings	Imaging findings
	Hypotonia	Myopathy	Dyspnea	Feeding difficulties	Absent reflex	Macroglossia	Hepatomegaly	Heart failure	Elevated CK	Cardiomegaly
Glycogen storage disease type II	+	+	+	+	+	+	+	+	+	+
Glycogen storage disease type III	-	+	-	-	-	-	+	-	+	+
Glycogen storage disease type IV	-	+	-	-	-	-	+	-	+	+
Acute Werdnig-Hoffmann disease (spinal muscular atrophy)	+	+	-	-	+	-	-	-	-	-
Hypothyroidism	+	-	-	-	-	+	-	-	-	-
Endocardial fibroelastosis	-	-	+	+	-	-	-	+	-	+
Myocarditis	-	-	-	-	-	-	-	-	-	+
Congenital muscular dystrophy	++	+	-	-	-	-	-	-	-	-
Mitochondrial/respiratory chain disorder	-	+	-	-	-	-	+	-	+	+
Peroxisomal disorders	+	-	-	-	-	-	+	-	-	-

Table Differentiating Late Onset Glycogen Storage Disease Type II from other Diseases

Diseases	History and Symptoms				Physical Examination				Laboratory Findings	Imaging findings
	Hypotonia	Myopathy	Dyspnea	Feeding difficulties	Absent reflex	Macroglossia	Hepatomegaly	Heart failure	Elevated CK	Cardiomegaly
Glycogen storage disease type II	+	+	+	+	+	+	+	+	+	+
Glycogen storage disease type III	-	+	-	-	-	-	+	-	+	+
Glycogen storage disease type IV	-	+	-	-	-	-	+	-	+	+
Acute Werdnig-Hoffmann disease (spinal muscular atrophy)	+	+	-	-	+	-	-	-	-	-
Hypothyroidism	+	-	-	-	-	+	-	-	-	-
Endocardial fibroelastosis	-	-	+	+	-	-	-	+	-	+
Myocarditis	-	-	-	-	-	-	-	-	-	+
Congenital muscular dystrophy	++	+	-	-	-	-	-	-	-	-
Mitochondrial/respiratory chain disorder	-	+	-	-	-	-	+	-	+	+
Peroxisomal disorders	+	-	-	-	-	-	+	-	-	-