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Learn About Glycogen Storage Disease Type 7

What is the definition of Glycogen Storage Disease Type 7?
Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy, and breathing difficulties. This condition is caused by changes in the PFKM gene and is inherited in an autosomal recessive manner.
What are the alternative names for Glycogen Storage Disease Type 7?
  • Glycogen storage disease type 7
  • GSD7
  • Muscle phosphofructokinase deficiency
  • PFKM deficiency
  • Tarui disease
Who are the top Glycogen Storage Disease Type 7 Local Doctors?
Distinguished in Glycogen Storage Disease Type 7
Distinguished in Glycogen Storage Disease Type 7

Northwestern Medical Faculty Foundation

1200 N Westmoreland Rd, Suite 100, 
Lake Forest, IL 
 (24.5 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Charulatha Nagar is a Neurologist in Lake Forest, Illinois. Dr. Nagar and is rated as a Distinguished provider by MediFind in the treatment of Glycogen Storage Disease Type 7. Her top areas of expertise are Glycogen Storage Disease Type 13, Glycogen Storage Disease Type 7, Glycogen Storage Disease Type 0, and Adult Polyglucosan Body Disease. Dr. Nagar is currently accepting new patients.

Advanced in Glycogen Storage Disease Type 7
Internal Medicine
Advanced in Glycogen Storage Disease Type 7
Internal Medicine

Select Rehabilitation LLC

2600 Compass Rd, 
Glenview, IL 
 (20.0 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Randall Sternberg is an Internal Medicine provider in Glenview, Illinois. Dr. Sternberg and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. His top areas of expertise are Phosphoglycerate Mutase Deficiency, Glycogen Storage Disease Type 6, Glycogen Storage Disease Type 0, and Glycogen Storage Disease Type 9. Dr. Sternberg is currently accepting new patients.

 
 
 
 
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Advanced in Glycogen Storage Disease Type 7
Palliative Medicine | Geriatrics
Advanced in Glycogen Storage Disease Type 7
Palliative Medicine | Geriatrics

Northwestern Medical Faculty Foundation

660 N Westmoreland Rd, 
Lake Forest, IL 
 (24.5 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Heather Hopkins-Gil is a Palliative Medicine specialist and a Geriatrics provider in Lake Forest, Illinois. Dr. Hopkins-Gil and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. Her top areas of expertise are Phosphoglycerate Kinase Deficiency, Glycogen Storage Disease Type 7, Glycogen Storage Disease Type 0, and Glycogen Storage Disease Type 9. Dr. Hopkins-Gil is currently accepting new patients.

What are the latest Glycogen Storage Disease Type 7 Clinical Trials?
Rare Glycogen Storage Diseases Natural History Study

Summary: The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center