Glycogen storage disease type II differential diagnosis

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 differential diagnosis 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 differential diagnosis 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 differential diagnosis
CDC on Glycogen storage disease type II differential diagnosis
Glycogen storage disease type II differential diagnosis in the news
Blogs on Glycogen storage disease type II differential diagnosis
Directions to Hospitals Treating Glycogen storage disease type II
Risk calculators and risk factors for Glycogen storage disease type II differential diagnosis

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	-	-	-	-	-