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

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
Line 1: Line 1:
  __NOTOC__
  __NOTOC__
{{Glycogen storage disease type II}}
{{Glycogen storage disease type II}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{Anmol}}


==Overview==
==Overview==
Line 11: Line 11:


==History and Symptoms==
==History and Symptoms==
*The majority of patients with [disease name] are asymptomatic.
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].
*Symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. 
===History===
===History===
Patients with [disease name]] may have a positive history of:<ref name="pmid16133732">{{cite journal| author=Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ et al.| title=The natural course of non-classic Pompe's disease; a review of 225 published cases. | journal=J Neurol | year= 2005 | volume= 252 | issue= 8 | pages= 875-84 | pmid=16133732 | doi=10.1007/s00415-005-0922-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16133732  }} </ref>
Patients with glycogen storage disease type II may have a positive history of:<ref name="pmid16133732">{{cite journal| author=Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ et al.| title=The natural course of non-classic Pompe's disease; a review of 225 published cases. | journal=J Neurol | year= 2005 | volume= 252 | issue= 8 | pages= 875-84 | pmid=16133732 | doi=10.1007/s00415-005-0922-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16133732 }} </ref><ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982 }} </ref>
*Development delay in milestones
*Development delay in milestones
*Infant slips through when grasped under the arms
*Respiratory difficulties
*Respiratory difficulties
*[History finding 3]
*Frequent respiratory infections
===Common Symptoms===
*Cardiac symptoms
Common symptoms of glycogen storage disease type II include:<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883  }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283  }} </ref>
 
===Infantile Onset Glycogen Storage Disease Type II===
====Common Symptoms====
Common symptoms of infantile onset glycogen storage disease type II include:<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883  }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982 }} </ref>
*Hypotonia
*Hypotonia
*Muscular weakness
*Muscular weakness
*Motor retardation
*Motor retardation
*Paucity of movements
*Paucity of movements
*Laxity of facial muscles
*Respiratory distress
*Respiratory distress
*Feeding difficulties
*Feeding difficulties
Line 31: Line 32:
*Cardiac symptoms due to cardiomegaly and cardiomyopathy
*Cardiac symptoms due to cardiomegaly and cardiomyopathy


===Less Common Symptoms===
====Less Common Symptoms====
Less common symptoms of glycogen storage disease type 2 include:<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883  }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283  }} </ref>
Less common symptoms of infantile onset glycogen storage disease type 2 include:<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883  }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283  }} </ref><ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982  }} </ref>
*Areflexia (in late stages of disease)
*Malaise
*Malaise
*Sweatiness
*Sweatiness
Line 44: Line 46:
*Spasm
*Spasm
*Tremor
*Tremor
===Late Onset Glycogen Storage Disease Type II===
====Common Symptoms====
Common symptoms of late onset glycogen storage disease type II include:<ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982  }} </ref>
*Progressive muscular weakness (all patients)
**Predominantly proximal
**Lower limbs affected more than upper
**Involvement of paraspinal muscles (older children)
**Hypotonia
**Decreased deep tendon reflexes
*Swallowing difficulty
*Respiratory problems
**Frequent respiratory infections
**Respiratory insufficiency or failure
**Exertional dyspnea
**Obstructive sleep apnea
**Orthopnea
**Exercise intolerance
====Less Common Symptoms====
Less common symptoms of late onset glycogen storage disease type 2 include:<ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982  }} </ref>
*Cardiac problems
*Macroglossia
*Morning headache
*Somnolence
*Lower back pain
*Decreased deep tendon reflexes
*Lordosis, kyphosis, and/or scoliosis


==References==
==References==

Revision as of 18:06, 19 January 2018

Glycogen storage disease type II Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Glycogen storage disease type II from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Glycogen storage disease type II history and symptoms On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Glycogen storage disease type II history and symptoms

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Glycogen storage disease type II history and symptoms

CDC on Glycogen storage disease type II history and symptoms

Glycogen storage disease type II history and symptoms in the news

Blogs on Glycogen storage disease type II history and symptoms

Directions to Hospitals Treating Glycogen storage disease type II

Risk calculators and risk factors for Glycogen storage disease type II history and symptoms

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

The majority of patients with [disease name] are asymptomatic.

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

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

  • Development delay in milestones
  • Infant slips through when grasped under the arms
  • Respiratory difficulties
  • Frequent respiratory infections
  • Cardiac symptoms

Infantile Onset Glycogen Storage Disease Type II

Common Symptoms

Common symptoms of infantile onset glycogen storage disease type II include:[3][4][2]

  • Hypotonia
  • Muscular weakness
  • Motor retardation
  • Paucity of movements
  • Laxity of facial muscles
  • Respiratory distress
  • Feeding difficulties
  • Failure to thrive
  • Cardiac symptoms due to cardiomegaly and cardiomyopathy

Less Common Symptoms

Less common symptoms of infantile onset glycogen storage disease type 2 include:[3][4][2]

  • Areflexia (in late stages of disease)
  • Malaise
  • Sweatiness
  • Fatigue
  • Irritability
  • Weak cry
  • Constipation
  • Vomiting
  • Gastroesophageal reflux
  • Sleep apnea
  • Spasm
  • Tremor

Late Onset Glycogen Storage Disease Type II

Common Symptoms

Common symptoms of late onset glycogen storage disease type II include:[2]

  • Progressive muscular weakness (all patients)
    • Predominantly proximal
    • Lower limbs affected more than upper
    • Involvement of paraspinal muscles (older children)
    • Hypotonia
    • Decreased deep tendon reflexes
  • Swallowing difficulty
  • Respiratory problems
    • Frequent respiratory infections
    • Respiratory insufficiency or failure
    • Exertional dyspnea
    • Obstructive sleep apnea
    • Orthopnea
    • Exercise intolerance

Less Common Symptoms

Less common symptoms of late onset glycogen storage disease type 2 include:[2]

  • Cardiac problems
  • Macroglossia
  • Morning headache
  • Somnolence
  • Lower back pain
  • Decreased deep tendon reflexes
  • Lordosis, kyphosis, and/or scoliosis

References

  1. ↑ Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ; et al. (2005). "The natural course of non-classic Pompe's disease; a review of 225 published cases". J Neurol. 252 (8): 875–84. doi:10.1007/s00415-005-0922-9. PMID 16133732.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 Kishnani PS, Howell RR (2004). "Pompe disease in infants and children". J Pediatr. 144 (5 Suppl): S35–43. doi:10.1016/j.jpeds.2004.01.053. PMID 15126982.
  3. ↑ 3.0 3.1 Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; et al. (2006). "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease". J Pediatr. 148 (5): 671–676. doi:10.1016/j.jpeds.2005.11.033. PMID 16737883.
  4. ↑ 4.0 4.1 van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.

Template:WS Template:WH

Retrieved from "https://www.wikidoc.org/index.php?title=Glycogen_storage_disease_type_II_history_and_symptoms&oldid=1431227"