Neurology: Case of the Month

Test Yourself — Patient 80

Oculopharyngeal Muscular Dystrophy

1. The most prominent features of oculopharyngeal muscular dystrophy (OPMD) include all of the following EXCEPT:
   • [ A ] Ptosis
   • [ B ] Distal weakness
   • [ C ] Dysphagia
   • [ D ] Limitations of ocular movements
   • [ E ] All of the above
2. Cases of patients with oculopharyngeal muscular dystrophy (OPMD) have often been found in clusters, the largest of which is located in WHICH of the following regions:
   • [ A ] Mexico
   • [ B ] Australia
   • [ C ] Canada
   • [ D ] Israel
   • [ E ] Scotland
3. Muscle biopsies of patients with OPMD may reveal WHICH of the following features:
   • [ A ] Loss of muscle fibers
   • [ B ] Variation in muscle fiber size
   • [ C ] Intranuclear tubular filaments
   • [ D ] Rimmed vacuoles
   • [ E ] All of the above
4. The best treatment option(s) currently available for patients with OPMD are:
   • [ A ] Anabolic steroids
   • [ B ] Blepharoplasty
   • [ C ] Chaperone proteins
   • [ D ] Injection of muscle stem cells
   • [ E ] None of the above
5. Oculopharyngeal muscular dystrophy (OPMD) is frequently inherited in WHICH of the following patterns:
   • [ A ] Autosomal dominant
   • [ B ] Autosomal recessive
   • [ C ] X-linked
   • [ D ] Both A and B
   • [ E ] No monogenic inheritance pattern has been documented

 

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