Glycogen storage disease type II differential diagnosis: Difference between revisions
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{{ | [[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Glycogen_storage_disease_type_II]] | ||
{{ | {{CMG}}; {{AE}}{{Anmol}} | ||
==Overview== | ==Overview== | ||
Infantile onset glycogen storage disease type 2 (GSD type 2) must be differentiated from other diseases on the basis of characteristics including [[hypotonia]], [[myopathy]], [[dyspnea]], feeding diffculties, absent reflex, [[macroglossia]], [[hepatomegaly]], [[heart failure]], elevated [[CK]], and [[cardiomegaly]]. Infantile onset glycogen storage disease should be differentiated from [[glycogen storage disease type 3]], [[Glycogen storage disease type IV|glycogen storage disease type 4]], acute Werdnig-Hoffman disease ([[spinal muscular atrophy]]), [[hypothyroidism]], [[endocardial fibroelastosis]], [[myocarditis]], [[congenital muscular dystrophy]], mitochondrial/respiratory chain disorder, peroxisomal disorders. Late onset glycogen storage disease type 2 (GSD type 2) must be differentiated from other diseases on the basis of characteristics including [[hypotonia]], [[muscle weakness]], respiratory imapirement, difficulty in walking, [[hepatomegaly]], elevated [[CK]], and [[cardiomyopathy]]. Late onset glycogen storage disease should be differentiated from [[glycogen storage disease type 3]], [[Glycogen storage disease type IV|glycogen storage disease type 4]], limb girdle muscle atrophy (LGMD), [[Becker's muscular dystrophy|Becker muscular dystrophy]] (BMD), scapuloperonral syndromes, [[Mitochondrial myopathy|mitochondrial myopathies]], [[myasthenia gravis]], [[spinal muscular atrophy]], [[polymyositis]]. | |||
[ | |||
==Differentiating Infantile Onset Glycogen Storage Disease Type II from other Diseases== | ==Differentiating Infantile Onset Glycogen Storage Disease Type II from other Diseases== | ||
* | *Infantile onset glycogen storage disease type 2 (GSD type 2) must be differentiated from other diseases on the basis of characteristics including [[hypotonia]], [[myopathy]], [[dyspnea]], feeding diffculties, absent reflex, [[macroglossia]], [[hepatomegaly]], [[heart failure]], elevated [[CK]], and [[cardiomegaly]]. Infantile onset glycogen storage disease should be differentiated from [[glycogen storage disease type 3]], [[Glycogen storage disease type IV|glycogen storage disease type 4]], acute Werdnig-Hoffman disease ([[spinal muscular atrophy]]), [[hypothyroidism]], [[endocardial fibroelastosis]], [[myocarditis]], [[congenital muscular dystrophy]], mitochondrial/respiratory chain disorder, peroxisomal disorders. | ||
*Late onset glycogen storage disease type 2 (GSD type 2) must be differentiated from other diseases on the basis of characteristics including [[hypotonia]], [[muscle weakness]], respiratory imapirement, difficulty in walking, [[hepatomegaly]], elevated [[CK]], and [[cardiomyopathy]]. Late onset glycogen storage disease should be differentiated from [[glycogen storage disease type 3]], [[Glycogen storage disease type IV|glycogen storage disease type 4]], limb girdle muscle atrophy (LGMD), [[Becker's muscular dystrophy|Becker muscular dystrophy]] (BMD), scapuloperonral syndromes, [[Mitochondrial myopathy|mitochondrial myopathies]], [[myasthenia gravis]], [[spinal muscular atrophy]], [[polymyositis]]. | |||
===Table Differentiating Infantile Onset Glycogen Storage Disease Type II from other Diseases=== | ===Table Differentiating Infantile Onset Glycogen Storage Disease Type II from other Diseases=== | ||
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!Cardiomegaly | !Cardiomegaly | ||
|- | |- | ||
| 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: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
|- | |- | ||
| 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;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
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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;" |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;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
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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;" |Acute Werdnig-Hoffmann disease (spinal muscular atrophy) | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Acute Werdnig-Hoffmann disease ([[spinal muscular atrophy]])''' | ||
| 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: #DCDCDC; padding: 5px; text-align: center;" |Hypothyroidism | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Hypothyroidism]]''' | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| 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;" |Endocardial fibroelastosis | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Endocardial fibroelastosis]]''' | ||
| 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;" |Myocarditis | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Myocarditis]]''' | ||
| 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;" |Congenital muscular dystrophy | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Congenital muscular dystrophy]]''' | ||
| style="background: #F5F5F5; padding: 5px;" | ++ | | style="background: #F5F5F5; padding: 5px;" | ++ | ||
| 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: #DCDCDC; padding: 5px; text-align: center;" |Mitochondrial/respiratory chain disorder | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Mitochondrial/respiratory chain disorder''' | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
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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;" |Peroxisomal disorders | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Peroxisomal disorders''' | ||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | | style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | ||
| style="background: #F5F5F5; padding: 5px;" | - | | style="background: #F5F5F5; padding: 5px;" | - | ||
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|} | |} | ||
=== Table Differentiating Late Onset Glycogen Storage Disease Type II from other Diseases === | |||
{| | |||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |||
! rowspan="2" |Diseases | |||
! colspan="4" |History and Symptoms | |||
!Physical Examination | |||
!Laboratory Findings | |||
!Imaging findings | |||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |||
!Hypotonia | |||
!Muscle weakness | |||
!Respiratory impairement | |||
!Difficulty in walking | |||
!Hepatomegaly | |||
!Elevated CK | |||
!Cardiomyopathy | |||
|- | |||
| 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;" |Progressive [[muscle weakness]] | |||
| 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;" |'''[[Glycogen storage disease type III]]''' | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |Progressive [[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: #DCDCDC; padding: 5px; text-align: center;" |'''[[Glycogen storage disease type IV]]''' | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |Progressive [[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: #DCDCDC; padding: 5px; text-align: center;" |'''Limb girdle muscular atrophy (LMGD)''' | |||
| 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;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Becker muscular dystrophy]] (BMD)''' | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" |Progressive proximal [[muscle weakness]] | |||
| 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: #DCDCDC; padding: 5px; text-align: center;" |'''Scapuloperoneal syndromes''' | |||
| 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;" | - | |||
| 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: #DCDCDC; padding: 5px; text-align: center;" |'''[[Mitochondrial myopathy|Mitochondrial myopathies]]''' | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |[[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;" |<nowiki>+</nowiki> | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Myasthenia gravis]]''' | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" |Generalized [[muscle weakness]] | |||
| 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: #DCDCDC; padding: 5px; text-align: center;" |'''[[Spinal muscular atrophy]]''' | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" |Asymmetrical [[muscle weakness]], atrophy of voluntary [[muscles]] | |||
| 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: #DCDCDC; padding: 5px; text-align: center;" |'''[[Polymyositis]]''' | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" |Unexplained [[muscle weakness]] | |||
| 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;" | - | |||
|} | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} |
Latest revision as of 22:11, 8 February 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Infantile onset glycogen storage disease type 2 (GSD type 2) must be differentiated from other diseases on the basis of characteristics including hypotonia, myopathy, dyspnea, feeding diffculties, absent reflex, macroglossia, hepatomegaly, heart failure, elevated CK, and cardiomegaly. Infantile onset glycogen storage disease should be differentiated from glycogen storage disease type 3, glycogen storage disease type 4, acute Werdnig-Hoffman disease (spinal muscular atrophy), hypothyroidism, endocardial fibroelastosis, myocarditis, congenital muscular dystrophy, mitochondrial/respiratory chain disorder, peroxisomal disorders. Late onset glycogen storage disease type 2 (GSD type 2) must be differentiated from other diseases on the basis of characteristics including hypotonia, muscle weakness, respiratory imapirement, difficulty in walking, hepatomegaly, elevated CK, and cardiomyopathy. Late onset glycogen storage disease should be differentiated from glycogen storage disease type 3, glycogen storage disease type 4, limb girdle muscle atrophy (LGMD), Becker muscular dystrophy (BMD), scapuloperonral syndromes, mitochondrial myopathies, myasthenia gravis, spinal muscular atrophy, polymyositis.
Differentiating Infantile Onset Glycogen Storage Disease Type II from other Diseases
- Infantile onset glycogen storage disease type 2 (GSD type 2) must be differentiated from other diseases on the basis of characteristics including hypotonia, myopathy, dyspnea, feeding diffculties, absent reflex, macroglossia, hepatomegaly, heart failure, elevated CK, and cardiomegaly. Infantile onset glycogen storage disease should be differentiated from glycogen storage disease type 3, glycogen storage disease type 4, acute Werdnig-Hoffman disease (spinal muscular atrophy), hypothyroidism, endocardial fibroelastosis, myocarditis, congenital muscular dystrophy, mitochondrial/respiratory chain disorder, peroxisomal disorders.
- Late onset glycogen storage disease type 2 (GSD type 2) must be differentiated from other diseases on the basis of characteristics including hypotonia, muscle weakness, respiratory imapirement, difficulty in walking, hepatomegaly, elevated CK, and cardiomyopathy. Late onset glycogen storage disease should be differentiated from glycogen storage disease type 3, glycogen storage disease type 4, limb girdle muscle atrophy (LGMD), Becker muscular dystrophy (BMD), scapuloperonral syndromes, mitochondrial myopathies, myasthenia gravis, spinal muscular atrophy, polymyositis.
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 | + | Progressive muscle weakness | + | + | + | + | + |
Glycogen storage disease type III | + | Progressive muscle weakness | - | - | + | + | +/- |
Glycogen storage disease type IV | + | Progressive muscle weakness | - | - | + | + | +/- |
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 | + | Muscle weakness | - | - | + | + | + |
Myasthenia gravis | - | Generalized muscle weakness | - | - | - | - | - |
Spinal muscular atrophy | - | Asymmetrical muscle weakness, atrophy of voluntary muscles | - | - | - | - | - |
Polymyositis | - | Unexplained muscle weakness | - | - | - | - | - |