Congenital Universal Muscular Hypoplasia of Krabbe

Overview

What is Congenital Universal Muscular Hypoplasia of Krabbe?

Congenital universal muscular hypoplasia of Krabbe (CUMH of Krabbe) is a rare genetic muscle disorder that affects all of a baby's muscles at birth, but does not cause them to worsen as they get older. The word congenital means the condition is present from birth. Muscular hypoplasia means that the muscles did not fully develop. "Universal" in this condition means that all the muscles of the body are equally affected. It is important to mention that CUMH of Krabbe is a very different inherited condition than the severe brain and nerve condition called "Krabbe disease" also known as globoid cell leukodystrophy.

Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. Muscular Hypoplasia, Congenital Universal, of Krabbe, 159100: Last edited 7/9/2016 https://www.omim.org/entry/159100#3 Accessed 12JAN19

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