Glycogen Storage Disease Type VII

Overview

An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Glycogen Storage Disease Type VII

Topic type

Condition

Category

Orthopaedics

MeSH classification

C05.651.534.500.149|C10.668.491.175.500.112|C16.320.565.202.449.600|C16.320.577.149|C18.452.648.202.449.600

Preparing for an appointment about Glycogen Storage Disease Type VII

If you are speaking with a healthcare professional about Glycogen Storage Disease Type VII, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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