A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit

Naomi Hino-Fukuyo, Kazuhiro Haginoya, Yukiko K. Hayashi, Ichizo Nishino, Terumi Murakami, Ikuya Nonaka, Kaoru Togashi, Souichiro Tanaka, Masaru Takayanagi, Hiroyuki Yokoyama, Osamu Sakamoto, Toshiaki Abe, Tatsushi Toda, Kazuie Iinuma

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. Magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed.

Original languageEnglish
Pages (from-to)274-276
Number of pages3
JournalNeuromuscular Disorders
Volume16
Issue number4
DOIs
Publication statusPublished - 2006 Apr 1

Keywords

  • FCMD
  • Set ERG
  • Very mild mental deficit
  • WISC III

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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