Early Onset of X-Linked Emery-Dreifuss Muscular Dystrophy in a Boy with Emerin Gene Deletion

S. Fujimoto; T. Ishikawa; M. Saito; Y. Wada; I. Wada; K. Arahata; I. Nonaka

doi:10.1055/s-2007-973484

Neuropediatrics, Table of Contents

Neuropediatrics 1999; 30(3): 161-163
DOI: 10.1055/s-2007-973484

Short communications

Early Onset of X-Linked Emery-Dreifuss Muscular Dystrophy in a Boy with Emerin Gene Deletion

S. Fujimoto¹ ^, ² , T. Ishikawa¹ , M. Saito¹ , Y. Wada¹ , I. Wada³ , K. Arahata⁴ , I. Nonaka⁵

¹Departments of Pediatrics, Nagoya City University Medical School, Nagoya;
²Departments of Laboratory Medicine Nagoya City University Medical School, Nagoya;
³Departments of Orthopedics, Nagoya City University Medical School, Nagoya;
⁴Department of Neuromuscular Research, National Institute of Neuroscience, Kodaira;
⁵National Center Hospital for Mental, Nervous and Muscular Disorders, Kodaira, Japan

Abstract

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Abstract

A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years. Muscle computed tomography scanning revealed changes characteristic of muscle involvement. Emerin was not detected in the biopsied muscle, and RT-PCR and PCR-based genomic DIMA analyses of the emerin gene demonstrated no amplification product in the patient. These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death.

Key words

Emery-Dreifuss muscular dystrophy - Emerin - Molecular genetic diagnosis - Muscle contracture

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