Neurology: Case of the Month

Test Yourself — Patient 72

Facioscapulohumeral dystrophy (FSHD)

  1. Inflammatory cells located adjacent to muscle fibers are frequently seen in muscle biopsies from patients with WHICH of the following disorders?
    • [ A ] Duchenne muscular dystrophy
    • [ B ] Facioscapulohumeral muscular dystrophy
    • [ C ] Polymyositis
    • [ D ] All of the above
  2. Which of the following clinical features is MOST characteristic of patients with facioscapulohumeral dystrophy (FSHD)?
    • [ A ] Symmetry
    • [ B ] Absence of foot drop
    • [ C ] Disproportionate weakness of the deltoid muscle
    • [ D ] Abdominal muscle weakness
  3. Which of the following statements are TRUE?
    • [ A ] All patients with the classic FSHD phenotype harbor at least one deletion in the 4q35 region.
    • [ B ] Some patients with the classic FSHD phenotype may test negative for 4q35 deletions.
    • [ C ] Most FSHD-associated mutations cannot be detected with present testing methods.
  4. A patient with classic clinical features of FSHD tests positive for a deletion in the 4q35 chromosomal region, but lacks a documented family history of neuromuscular disease. Which of the following statements concerning this individual are TRUE?
    • [ A ] This patient has a definite de novo mutation in the 4q35 region.
    • [ B ] Apparently asymptomatic family members may have unrecognized clinical disease.
    • [ C ] This represents a false-positive DNA study.
    • [ D ] Biologic offspring of this individual have a 50% chance of inheriting the 4q35 deletion mutation. Nearly all offspring carrying this mutation will develop disabling disease, as penetrance approaches 100%.
  5. Which of the following statements about pain complaints in patients with facioscapulohumeral dystrophy (FSHD) is TRUE?
    • [ A ] It is unusual to have complaints of pain in FSHD, as the muscular dystrophies classically present with painless weakness.
    • [ B ] Vaguely radiating pain in patients with FSHD nearly always has a psychiatric basis.
    • [ C ] Multiple treatment modalities are often needed to effectively treat pain associated with FSHD.

 

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