Webster's New World Medical Dictionary


muscular dystrophy, Emery-Dreifuss



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Webster s New World Medical Dictionary (1)

muscular dystrophy, Emery-Dreifuss
A form
of muscular dystrophy (MD) that begins in child-
hood or the teen years. It is a slowly progressing
disorder that begins in the upper arms or upper
283
muscular dystrophy, Emery-Dreifuss
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legs. Contractures of the limbs are common, as are
serious heart problems. Emery-Dreifuss MD is
caused by mutation in the gene that encodes emerin
on the X chromosome. Although only males have the
muscle problems associated with Emery-Dreifuss
MD, females may have the heart problems.
Therefore, female relatives of males with this disor-
der should have regular heart checkups.
muscular dystrophy, facioscapulohumeral
A
form of muscular dystrophy that begins before age
20, with slowly progressive weakness of the muscles
of the face, shoulders, and feet. The severity of the
disease is variable. Abbreviated FSMD. Although
most people with FSMD retain the ability to walk,
about 20 percent of affected individuals require
wheelchairs. Life expectancy for FSMD is not short-
ened. The diagnosis can be confirmed with a DNA
test. FSMD is inherited in an autosomal dominant
manner. 
muscular dystrophy, limb-girdle
A form of
muscular dystrophy (MD) that may begin in child-
hood or any time later, with slowly progressive
weakness and wasting of the muscles in the hips or
shoulders. Limb-girdle MD is caused by a number
of genetic defects and can affect both males and
females.
muscular dystrophy, myotonic
See 
dystrophy,
myotonic.
muscular dystrophy, oculopharyngeal
A form
of muscular dystrophy (MD) that begins in the mus-
cles of the eyes and throat. It usually appears
between the ages of 40 and 60, and it progresses
slowly. Oculopharyngeal MD is inherited in an auto-
somal dominant manner and affects both males and
females. One cause of oculopharyngeal MD is muta-
tion in the PABP2 gene on chromosome 14, which
encodes poly(A)-binding protein-2.

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