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?
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 practicing medicine in Phoenix, Arizona. Dr. Sivakumar is rated as a Distinguished provider by MediFind in the treatment of Glycogen Storage Disease Type 7. He is also highly rated in 73 other conditions, according to our data. His clinical expertise encompasses Inclusion Body Myositis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, and Pompe Disease. Dr. Sivakumar is board certified in Psychiatry & Neurology (Neurology), Psychiatry & Neurology (Sub: Clinical Neurophysiolog, and Psychiatry & Neurology (Sub: Neuromuscular Medicine). 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 practicing medicine in Glenview, Illinois. She has been practicing medicine for over 36 years. Dr. Nagar is rated as a Distinguished provider by MediFind in the treatment of Glycogen Storage Disease Type 7. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Adult Polyglucosan Body Disease, Andersen Disease, Glycogen Storage Disease Type 13, and Phosphoglycerate Mutase Deficiency. Dr. Nagar is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified).

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

Cleveland Clinic Children's Outpatient Center

8950 Euclid Avenue, 
Cleveland, OH 
Languages Spoken:
English, Hindi

Kadakkal Radhakrishnan is a Pediatrics provider practicing medicine in Cleveland, Ohio. Dr. Radhakrishnan is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Glycogen Storage Disease Type 7, Phosphoglycerate Mutase Deficiency, Glycogen Storage Disease Type 13, and Liver Transplant. Dr. Radhakrishnan is board certified in American Board Of Pediatrics, 2010.

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