A family with oculopharyngeal muscular dystrophy with (GCG)9 expansion in which a sister had neck as well as proximal and her brother proximal lower limb muscle weakness

T. Takahashi, Maki Tateyama, M. Aoki, Y. Shiga, E. Uyama, Y. Itoyama

Research output: Contribution to journalArticle

Abstract

We report a 58-year-old woman (patient 1) and her 60-year-old brother (patient 2) with autosomal dominant oculopharyngeal muscular dystrophy. Patient 1 first noticed blepharoptosis and neck weakness at age 55. On neurological examination, she showed bilateral blepharoptosis and weakness in the neck and upper proximal limbs. Serum creatine kinase (CK) level was slightly elevated. Her older brother first noticed blepharoptosis and lower limb weakness at age 51. On neurological examination, he showed bilateral blepharoptosis, slight ophthalmoparesis and bilateral iliopsoas muscle weakness. Serum CK level was normal. Esophageal fluoroscopy disclosed dysfunction of the constrictor pharyngeal muscles. Muscle biopsy of them showed myopathic changes with rimmed vacuoles. The (GCG) 9 mutation in the poly (A) binding protein 2 gene was identified, which was the same as seen in the large French-Canadian kindred in Québec in Canada, The clinical phenotype in patient 2 is similar to that of French-Canadian patients but it in patient 1 is different in distribution of muscle weakness.

Original languageEnglish
Pages (from-to)911-914
Number of pages4
JournalClinical Neurology
Volume40
Issue number9
Publication statusPublished - 2000 Dec 1
Externally publishedYes

Keywords

  • Genotype
  • Oculopharyngeal muscular dystrophy
  • Phenotype
  • Poly (A) binding protein 2 gene

ASJC Scopus subject areas

  • Clinical Neurology

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