Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator

Yoshio Sakiyama, M.D., Ph.D.1), Eri Watanabe, M.D.1), Mieko Otsuka, M.D., Ph.D.1), Taishi Hirahara, M.D.2), Shinichi Momomura, M.D., Ph.D.2) and Yukiko Hayashi, M.D., Ph.D.3)4)

1)Department of Neurology, Jichi Medical University, Saitama Medical Center
2)Department of Cardiovascular Medicine, Jichi Medical University, Saitama Medical Center
3)Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
4)Department of Neurophysiology, Tokyo Medical University

The patient was a 53-year-old male. He showed steppage gait at the age of 11 and equinus foot at 13. He walked unaided with shoe-insoles to support his heels. Atrial fibrillation and cardiac hypertrophy were found in his 30s, and ventricular tachycardia (VT) was observed at the age of 48. Electrophysiological studies were performed, but VT was not sustained, symptomatic, or showed signs of infra-Hisian block, and a pacemaker was not indicated. At 53, he was introduced to a neurologist because of tetraplegia after the first episode of syncope. A spinal MR showed ossification of posterior longitudinal ligament (OPLL) and central cervical cord injury. Furthermore, he presented not only contracture in his shoulder, elbow, and ankles but also atrophy in his scapulohumeral and gastrocnemius muscles. In accordance with a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD), provocative testing of VT was carried out, and a cardiac resynchronization therapy defibrillator (CRT-D) was implanted. Later, a mutation analysis of the LMNA gene disclosed a known missense mutation of p.Arg377His, and we diagnosed him as EDMD2 (laminopathy). Contractures could be the clue to diagnose EDMD and indicate the need for pacemakers and defibrillators in patients with cardiac conduction disorders.
Full Text of this Article in Japanese PDF (1544K)

(CLINICA NEUROL, 54: 489－494, 2014)
key words: Emery-Dreifuss muscular dystrophy, LMNA mutation, ventricular tachycardia, cardiac resynchronization therapy defibrillator, ossification of posterior long ligament

(Received: 18-Sep-13)