Glycogen storage disease type II differential diagnosis
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Differentiating Glycogen storage disease type II from other Diseases |
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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 | + | - | - | - | - | - | + | - | - | - |