Glycogen Storage Disease Type 7
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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?
Kumaraswamy Sivakumar
Distinguished in Glycogen Storage Disease Type 7
Distinguished in Glycogen Storage Disease Type 7

Neuromuscular Research Center

4545 E Shea Blvd, Ste 175, 
Phoenix, AZ 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Kumaraswamy Sivakumar is a Neurologist in Phoenix, Arizona. Dr. Sivakumar is rated as a Distinguished provider by MediFind in the treatment of Glycogen Storage Disease Type 7. His top areas of expertise are Inclusion Body Myositis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, and Pompe Disease. Dr. Sivakumar is currently accepting new patients.

Distinguished in Glycogen Storage Disease Type 7
Distinguished in Glycogen Storage Disease Type 7
2701 Patriot Blvd, 
Glenview, IL 
Experience:
36+ years
Languages Spoken:
English
Offers Telehealth

Charulatha Nagar is a Neurologist in Glenview, Illinois. Dr. Nagar has been practicing medicine for over 36 years 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 9, Glycogen Storage Disease Type 0, Andersen Disease, and Adult Polyglucosan Body Disease.

 
 
 
 
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Advanced in Glycogen Storage Disease Type 7
Advanced in Glycogen Storage Disease Type 7

Duke Health Integrated Practice Inc

40 Duke Medicine Cir, 
Durham, NC 
Languages Spoken:
English
Accepting New Patients

Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani 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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Who are the sources who wrote this article ?

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