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, M. Tateyama, M. Aoki, Y. Shiga, E. Uyama, Y. Itoyama

    Research output: Contribution to journalArticlepeer-review

    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

    Keywords

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

    ASJC Scopus subject areas

    • Clinical Neurology

    Fingerprint Dive into the research topics of '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'. Together they form a unique fingerprint.

    Cite this