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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?

Allegheny Clinic

4800 Friendship Ave, 
Pittsburgh, PA 
 (99.5 mi)
Languages Spoken:
English
Offers Telehealth

John Lyne is an Urologist in Pittsburgh, Pennsylvania. Dr. Lyne and is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. His top areas of expertise are Prostate Cancer, Familial Prostate Cancer, Boils, Nephrectomy, and Ureteroscopy.

Hematology Oncology | Hematology | Oncology
Hematology Oncology | Hematology | Oncology

St Lukes Physician Group Inc

1736 W Hamilton St, 
Allentown, PA 
 (243.3 mi)
Languages Spoken:
English
Offers Telehealth

Subhash Proothi is a Hematologist Oncology specialist and a Hematologist in Allentown, Pennsylvania. Dr. Proothi and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. His top areas of expertise are Thrombocytopenia, Adult Immune Thrombocytopenia, Monoclonal Gammopathy of Undetermined Significance (MGUS), and Childhood Iron Deficiency Anemia.

 
 
 
 
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University Of Penn - Medical Group

3400 Spruce St, 
Philadelphia, PA 
 (277.7 mi)
Experience:
15+ years
Languages Spoken:
English

Jennifer Orthmann-Murphy is a Neurologist in Philadelphia, Pennsylvania. Dr. Orthmann-Murphy has been practicing medicine for over 15 years and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. Her top areas of expertise are Andersen Disease, Adult Polyglucosan Body Disease, CACH Syndrome, and Phosphoglycerate Kinase Deficiency.

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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Who are the sources who wrote this article ?

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