Case Study: Proband: This 64-year-old right-handed man, 20 years prior to presentation, noticed that he could not eat hard candy, had recurrent cough, and difficulty swallowing. His symptoms gradually worsened. Ten years preceding presentation, his dysphagia was so severe that he was almost constantly choking, and developed bilateral ptosis requiring surgical intervention. He also notes double vision when tired, difficulty chewing, weakness in both upper arms, and trouble with memory. Concurrenty, he suffered a gradual reduction in taste to 10% of normal.
Results: Abnormalities in neurological examination: CN III, IV and VI: Restricted horizontal end gaze bilaterally. Bilateral ptosis. Chemosensory testing: Olfaction: Brief Smell Identification Test: 7 (hyposmia). Alcohol Sniff Test: 0 (anosmia). Retronasal Olfactory Testing: Retronasal Smell Index: 1 (anosmia). Gustation: Propylthiouracil Disc Taste Test: 1 (ageusia)
OPMD Repeat Expansion Test – positive.
Sister of proband: This 75-year-old woman, ten years before presentation, developed progressive difficulty swallowing, frequent choking, and eyelid ptosis requiring surgery. For three years, she noted a reduction of smell to 75% and taste to 80% of normal.
OPMD Repeat Expansion Test – positive.
Mother of proband: At age 50, she experienced onset of choking, difficulty swallowing, and ptosis, coincident with total loss of smell and taste. The patient died at age 68.