Glycogen storage disease type III history and symptoms: Difference between revisions

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{{CMG}}; {{AE}}  
{{CMG}}; {{AE}}  
==Overview==
==Overview==
The majority of patients with [disease name] are asymptomatic.
The hallmark of glycogen storage disease type 3 is hepatomegaly. The most common symptoms of glycogen storage disease include [[abdominal]] protuberance and [[muscle weakness]].
 
OR
 
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].


==History and Symptoms==
==History and Symptoms==
*The hallmark of glycogen storage disease type 3 is hepatomegaly. The most common symptoms of glycogen storage disease include [[abdominal]] protuberance and muscle weakness.
*The hallmark of glycogen storage disease type 3 is hepatomegaly. The most common symptoms of glycogen storage disease include [[abdominal]] protuberance and [[muscle weakness]].
===History===
===History===
Patients with glycogen storage disease type 3 may have a positive history of:
Patients with glycogen storage disease type 3 may have a positive history of:<ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref><ref>Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/</ref>
*[[Seizures]] or other manifestations of severe fasting [[hypoglycemia]]
*[[Seizures]] or other manifestations of severe fasting [[hypoglycemia]]
*[[Hepatomegaly]] with [[abdominal]] protuberance
*[[Hepatomegaly]] with [[abdominal]] protuberance
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===Common Symptoms===
===Common Symptoms===
Common symptoms of glycogen storage disease type 3 include:
Common symptoms of glycogen storage disease type 3 include:<ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref>
*Protruded abdomen due to hepatomegaly
*Protruded abdomen due to hepatomegaly
*Muscle weakness
*Muscle weakness
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===Less Common Symptoms===
===Less Common Symptoms===
Less common symptoms of glycogen storage disease type 3 include  
Less common symptoms of glycogen storage disease type 3 include:<ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref>
*Associated peripheral neuropathy
*Associated peripheral neuropathy
*Symptoms due to polycystic ovary disease
*Symptoms due to polycystic ovary disease

Revision as of 17:27, 22 December 2017

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

Overview

The hallmark of glycogen storage disease type 3 is hepatomegaly. The most common symptoms of glycogen storage disease include abdominal protuberance and muscle weakness.

History and Symptoms

  • The hallmark of glycogen storage disease type 3 is hepatomegaly. The most common symptoms of glycogen storage disease include abdominal protuberance and muscle weakness.

History

Patients with glycogen storage disease type 3 may have a positive history of:[1][2]

Common Symptoms

Common symptoms of glycogen storage disease type 3 include:[1]

  • Protruded abdomen due to hepatomegaly
  • Muscle weakness
  • Hypotonia
  • Wasting of skeletal muscle
  • Symptoms due to cardiac involvement

Less Common Symptoms

Less common symptoms of glycogen storage disease type 3 include:[1]

  • Associated peripheral neuropathy
  • Symptoms due to polycystic ovary disease
  • Ketoacidosis
  • hyperlipidemia
  • Growth retardation

References

  1. ↑ 1.0 1.1 1.2 Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.
  2. ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/

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