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

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.

• Authors: 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
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 16 Issue 4 Pg. 274-6 (Apr 2006) ISSN: 0960-8966 [Print] England
• PMID: 16545565 (Publication Type: Case Reports, Journal Article)

Chemical References

• FKTN protein, human
• Membrane Proteins

Topics

• Biopsy
• Child
• Haplotypes
• Humans
• Infant
• Intellectual Disability (complications)
• Intelligence Tests
• Magnetic Resonance Imaging
• Male
• Membrane Proteins (genetics)
• Muscles (pathology)
• Muscular Dystrophies (complications, congenital, diagnosis, genetics)
• Phenotype
• Retinal Dysplasia (complications, diagnosis)
• Wechsler Scales