Neurology: Case of the Month

Test Yourself — Patient 86

Limb-Girdle Muscular Dystrophy: Fukutin-Related Protein (LGMD-2I)

1. What is the mode(s) of hereditary transmission in Limb-Girdle Muscular Dystrophy?
   • [ A ] Autosomal Dominant
   • [ B ] Autosomal Recessive
   • [ C ] X-Linked Dominant
   • [ D ] X-Linked Recessive
   • [ E ] Both A and B
2. Which of the following would be expected in a muscle biopsy completed on a patient with Limb-Girdle Muscular Dystrophy?
   • [ A ] Inflammatory cell aggregates
   • [ B ] Subsarcolemmal glycogen accumulation and vacuoles
   • [ C ] Degeneration of muscle fibers with regeneration, variable necrosis, fiber splitting, variable muscle fiber size, and internal nuclei
   • [ D ] Ragged red fibers seen on modified Gomori trichrome stain
   • [ E ] Perifascicular atrophy
3. What is the treatment(s) for patients diagnosed with Limb-Girdle Muscular Dystrophy?
   • [ A ] Plasma exchange
   • [ B ] Intravenous Immunoglobulin
   • [ C ] Methotrexate
   • [ D ] Supportive Care
   • [ E ] Both A and B
4. Reasonable consultation(s) for a patient diagnosed with Limb-Girdle Muscular Dystrophy include:
   • [ A ] Pulmonology
   • [ B ] Cardiology
   • [ C ] Physical Therapy
   • [ D ] Genetic counseling
   • [ E ] All of the above
5. Which of the following phenotype would not be expected in a patient diagnosed with LGMD-2I?
   • [ A ] Scapular winging
   • [ B ] Cognitive decline
   • [ C ] Facial weakness
   • [ D ] Macroglossia
   • [ E ] Pelvic girdle weakness

 

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