先天性進行性筋ジストロフィー症の6歳女児例  非典型的福山型(第IV型)か

書誌事項

タイトル別名
  • Six-Year-Old Female with Atypical Fukuyama Type Congenital Muscular
  • 非典型的福山型 (第IV型)か

この論文をさがす

説明

We described a sporadic female case with congenital muscular dystrophy (CMD).<BR>The disease started between four and eight months of age and progressed slowly. She was unable to roll over till 7 months old, and could not creep or stand up without support in infancy. She began to walk at 13 months of age, kept waddling and never ran. In addition, facial muscle involvement became evident and joint contractures developed in the course of 4 years.<BR>She had muscle weakness predominant at the pelvic girdle, slight hypotonia and absent patellar tendon reflexes. Pseudohypertrophyw as noted in the four limbs, b ut prominenti n the calves. The Tanaka-Binet test gave an IQ of about 70. The serum creatine phosphokinase was about 20 times higher than the normal upper limit and electromyographys howed a myogenicp attern. A muscle biopsyr evealed pathologicalc hanges of progressive muscular dystrophy. The karyotype was that of a normal female with 46 XX.<BR>Clinical features of this patient were similar to those of the patient with atypical Fukuyama type CMD (FCMD) s, ubtype N describedb y Fukuyama et al. in 1981.S ince this case showed more mild involvemento f intelligence, e arly ambulation, m ore localizedd istribution of pseudohypertrophya nd pelvic girdle predominance in weakness, we consider that this case might be a variant form of subtype N of FCMD

収録刊行物

  • 脳と発達

    脳と発達 16 (1), 38-46, 1984

    THE JAPANESE SOCIETY OF CHILD NEUROLOGY

詳細情報 詳細情報について

  • CRID
    1390282679529756032
  • NII論文ID
    130004067915
  • DOI
    10.11251/ojjscn1969.16.38
  • ISSN
    18847668
    00290831
  • PubMed
    6712841
  • 本文言語コード
    ja
  • 資料種別
    journal article
  • データソース種別
    • JaLC
    • PubMed
    • CiNii Articles
  • 抄録ライセンスフラグ
    使用不可

問題の指摘

ページトップへ