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Gene: EMD

Green List (high evidence)

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by: joint contractures that begin in early childhood; progressive muscle weakness and wasting; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.

HGNC approved symbol/name: EMD
Is the phenotype(s) severe and onset <18yo? Yes, usually age 5-10
Known technical challenges? No
Gene reported in 3 independent families: Yes

Created: 17 Dec 2024, 11:53 p.m. | Last Modified: 17 Dec 2024, 11:53 p.m.

Panel Version: 1.836

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300

Publications

• 21697856
• 31802929
• 31645980