Learn About Emery-Dreifuss Muscular Dystrophy

What is the definition of Emery-Dreifuss Muscular Dystrophy?

Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.

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What are the causes of Emery-Dreifuss Muscular Dystrophy?

Mutations in several genes, including EMD, FHL1, and LMNA, can cause Emery-Dreifuss muscular dystrophy. Mutations in the EMD gene or, less commonly, in the FHL1 gene cause the X-linked type of the condition. Mutations in the LMNA gene cause both the autosomal dominant and autosomal recessive types of the condition.

How prevalent is Emery-Dreifuss Muscular Dystrophy?

The overall prevalence of Emery-Dreifuss muscular dystrophy is unknown. The X-linked type of this disorder affects an estimated 1 in 100,000 people. The prevalence of the autosomal dominant type is unknown, although it appears to be more common than the X-linked type. The autosomal recessive type appears to be very rare; only a few cases have been reported worldwide.

Is Emery-Dreifuss Muscular Dystrophy an inherited disorder?

Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When the condition is caused by mutations in the EMD or FHL1 gene, it is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

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What are the latest Emery-Dreifuss Muscular Dystrophy Clinical Trials?
Congenital Muscle Disease Patient and Proxy Reported Outcome Study

Summary: The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and bec...

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Identification of Genetic Modifying Factors in Striated Muscle Laminopathies

Summary: Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. At the skeletal muscle level, a wide phenotypic spectrum has been described, ranging from severe forms of congenital muscular d...

Who are the sources who wrote this article ?

Published Date: June 01, 2017Published By: National Institutes of Health

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Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy.