Glycogen storage disease type II differential diagnosis: Difference between revisions
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! rowspan="2" |Diseases | ! rowspan="2" |Diseases | ||
! colspan="4" |History and Symptoms | ! colspan="4" |History and Symptoms | ||
! | !Physical Examination | ||
!Laboratory Findings | !Laboratory Findings | ||
!Imaging findings | !Imaging findings | ||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" | ||
!Hypotonia | !Hypotonia | ||
! | !Muscle weakness | ||
! | !Respiratory impairement | ||
! | !Difficulty in walking | ||
!Hepatomegaly | !Hepatomegaly | ||
!Elevated CK | !Elevated CK | ||
! | !Cardiomyopathy | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Glycogen storage disease type II''' | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Glycogen storage disease type II''' | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
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|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Glycogen storage disease type III''' | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Glycogen storage disease type III''' | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | +/- | |||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Glycogen storage disease type IV''' | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Glycogen storage disease type IV''' | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | +/- | |||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Limb girdle muscular atrophy (LMGD) | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Progressive muscle weakness in pelvis, legs, and shoulders | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
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| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Becker muscular dystrophy (BMD) | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |Progressive proximal muscle weakness | |||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Scapuloperoneal syndromes | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |Progressive muscle weakness behind the knee and around the shoulder blades | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
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| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Mitochondrial myopathies | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
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| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Myasthenia gravis | ||
| style="background: #F5F5F5; padding: 5px;" | ++ | | style="background: #F5F5F5; padding: 5px;" | ++ | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
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| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Spinal muscular atrophy | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Polymyositis | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - |
Revision as of 18:45, 22 January 2018
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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 | Muscle weakness | Respiratory impairement | Difficulty in walking | Hepatomegaly | Elevated CK | Cardiomyopathy | |
Glycogen storage disease type II | + | + | + | + | + | + | + |
Glycogen storage disease type III | + | + | - | - | + | + | +/- |
Glycogen storage disease type IV | + | + | - | - | + | + | +/- |
Limb girdle muscular atrophy (LMGD) | - | Progressive muscle weakness in pelvis, legs, and shoulders | - | - | - | - | - |
Becker muscular dystrophy (BMD) | - | Progressive proximal muscle weakness | - | + | + | + | - |
Scapuloperoneal syndromes | - | Progressive muscle weakness behind the knee and around the shoulder blades | + | + | - | - | - |
Mitochondrial myopathies | - | - | - | - | - | - | + |
Myasthenia gravis | ++ | + | - | - | - | - | - |
Spinal muscular atrophy | - | + | - | - | + | + | + |
Polymyositis | + | - | - | - | + | - | - |