Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan

Kunio Tashiro, Seiji Kikuchi, Yasuo Itoyama, Yukio Tokumaru, Gen Sobue, Eiichiro Mukai, Ichiro Akiguchi, Kenji Nakashima, Jun Ichi Kira, Keizo Hirayama

Research output: Contribution to journalArticle

85 Citations (Scopus)

Abstract

Juvenile muscular atrophy of the distal upper extremity (JMADUE, Hirayama disease) was first reported in 1959 as 'juvenile muscular atrophy of unilateral upper extremity'. Since then, similar patients in their teens or 20s have been described, under a variety of names, not only in Japan, but also in other Asian countries, as well as Europe and North America. Biomechanical abnormalities associated with JMADUE have recently been reported through various imaging examinations, proposing its disease mechanism. Since JMADUE differs from motor neuron disease, or spinal muscular atrophy, this disease entity should be more widely recognized, and early detection and effective treatments should be considered. We report an epidemiological study in Japan. Two nationwide questionnaire-based surveys, conducted in Japan from 1996 to 1998, identified 333 cases. The numbers of patients per year, distribution of ages at onset, mode of onset, time lapse between onset and quiescence, neurological signs and symptoms, imaging findings, and the effects of conservative treatments were analyzed. The peak age was 15 to 17 years, with a marked male preponderance, usually a slow onset and progression, and quiescence six or fewer years after onset. There was a predominantly unilateral hand and forearm involvement with 'cold paresis'. The imaging findings are described.

Original languageEnglish
Pages (from-to)38-45
Number of pages8
JournalAmyotrophic Lateral Sclerosis
Volume7
Issue number1
DOIs
Publication statusPublished - Mar 1 2006

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Spinal Muscular Atrophies of Childhood
Upper Extremity
Japan
Spinal Muscular Atrophy
Motor Neuron Disease
Paresis
Muscular Diseases
North America
Age of Onset
Forearm
Signs and Symptoms
Names
Epidemiologic Studies
Hand
Surveys and Questionnaires
Monomelic amyotrophy
Therapeutics

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Tashiro, K., Kikuchi, S., Itoyama, Y., Tokumaru, Y., Sobue, G., Mukai, E., ... Hirayama, K. (2006). Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan. Amyotrophic Lateral Sclerosis, 7(1), 38-45. https://doi.org/10.1080/14660820500396877

Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan. / Tashiro, Kunio; Kikuchi, Seiji; Itoyama, Yasuo; Tokumaru, Yukio; Sobue, Gen; Mukai, Eiichiro; Akiguchi, Ichiro; Nakashima, Kenji; Kira, Jun Ichi; Hirayama, Keizo.

In: Amyotrophic Lateral Sclerosis, Vol. 7, No. 1, 01.03.2006, p. 38-45.

Research output: Contribution to journalArticle

Tashiro, K, Kikuchi, S, Itoyama, Y, Tokumaru, Y, Sobue, G, Mukai, E, Akiguchi, I, Nakashima, K, Kira, JI & Hirayama, K 2006, 'Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan', Amyotrophic Lateral Sclerosis, vol. 7, no. 1, pp. 38-45. https://doi.org/10.1080/14660820500396877
Tashiro, Kunio ; Kikuchi, Seiji ; Itoyama, Yasuo ; Tokumaru, Yukio ; Sobue, Gen ; Mukai, Eiichiro ; Akiguchi, Ichiro ; Nakashima, Kenji ; Kira, Jun Ichi ; Hirayama, Keizo. / Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan. In: Amyotrophic Lateral Sclerosis. 2006 ; Vol. 7, No. 1. pp. 38-45.
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