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.
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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?
CN
Dr. Charulatha P. Nagar
Neurology
Distinguished
Highly rated in
15
conditions
Neurology

Northwestern Medicine

Northwestern Medical Group - Neurosciences And Orthopaedics

1000 N Westmoreland Rd, 
Lake Forest, IL 

Charulatha Nagar is a Neurologist in Lake Forest, Illinois. Nagar has been practicing medicine for over 34 years and is rated as a Distinguished expert by MediFind in the treatment of Glycogen Storage Disease Type 7. She is also highly rated in 15 other conditions, according to our data. Her top areas of expertise are Glycogen Storage Disease Type 9, Glycogen Storage Disease Type 0, Adult Polyglucosan Body Disease, and Andersen Disease. She is licensed to treat patients in Illinois. Nagar is currently accepting new patients.

PP
Paivi L. Piirila
Distinguished
Highly rated in
5
conditions

University Of Helsinki

Department Of Pediatrics, 
Helsinki, FI 

Paivi Piirila practices in Helsinki, Finland. Piirila is rated as a Distinguished expert by MediFind in the treatment of Glycogen Storage Disease Type 7. They are also highly rated in 5 other conditions, according to our data. Their top areas of expertise are Glycogen Storage Disease Type 7, Occupational Asthma, Asthma, Hormone Replacement Therapy (HRT), and Heart Transplant.

 
 
 
 
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MA
Mari Auranen
Distinguished
Highly rated in
10
conditions

University Of Helsinki

Neurology, Helsinki University Hospital, 
Helsinki, FI 

Mari Auranen practices in Helsinki, Finland. Auranen is rated as a Distinguished expert by MediFind in the treatment of Glycogen Storage Disease Type 7. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Glycogen Storage Disease Type 7, Sensorimotor Polyneuropathy, Glutaric Acidemia Type 2, and Hereditary Sensory Neuropathy Type 1 (HSN1).

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What are the latest Glycogen Storage Disease Type 7 Clinical Trials?
Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Enrollment Status: Active, not recruiting
Publish Date: May 13, 2021

Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

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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

What are the Latest Advances for Glycogen Storage Disease Type 7?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.