J Korean Acad Rehabil Med.  2002 Feb;26(1):99-103.

Emery Dreifuss muscular Dystrophy: A case report

• Lee KM
• Lee JH

Abstract

Emery-Dreifuss muscular dystrophy(EDMD) is a very rare, has never reported in Korea, relatively benign muscle disorder caused by defects of emerin. The clinical triad include 1) early contracture of the elbows, Achilles tendons, and postcervical muscles, 2) progressive weakness and atrophy in a humeroperoneal distribution, and 3) cardiomyopathy characterized by conduction defect. Heart block is a frequent cause of death. The detection of this disorder is important because insertion of a cardiac pacemaker can be life saving. As emerin was not found in biopsies from patients affected by EDMD and most mutations in EDMD are null, the immunohistochemical diagnosis can be easily performed by detection the absence of emerin. We report a 14-year-old boy with slowly progressive scapuloperoneal muscle weakness and atrophy, and contracture of the Achilles tendons, elbows and postcervical muscles. Muscle biopsy showed marked atrophy of myofiber and increased intermysial fibrosis and immunohistochemical study showed emerin deficiency.

Keyword

Emery-Dreifuss muscular dystrophy; Emerin; Humeroperoneal distribution

MeSH Terms

Achilles Tendon
Adolescent
Atrophy
Biopsy
Cardiomyopathies
Cause of Death
Contracture
Diagnosis
Elbow
Fibrosis
Heart Block
Humans
Korea
Male
Muscle Weakness
Muscles
Muscular Diseases
Muscular Dystrophy, Emery-Dreifuss*