Muscle function in a patient with Brody's disease

Muscle Nerve. 1999 Jun;22(6):704-11. doi: 10.1002/(sici)1097-4598(199906)22:6<704::aid-mus6>3.0.co;2-z.

Abstract

Adductor pollicis muscle function of a 21-year-old man with genetically confirmed Brody's disease (sarcoplasmic reticulum [SR] -Ca2+ATPase deficiency) was investigated to study the possible effects of reduced SR-Ca2+ATPase activity on muscle relaxation and force production. Following maximal electrical activation of the ulnar nerve, tetanic muscle half-relaxation time was greater in the patient (246 +/- 10 ms) than control subjects (97 +/- 4 ms, n = 8). During repetitive activation, there was a similar decline in maximal shortening velocity in the patient and controls, indicating a comparable reduction in cross-bridge cycling rate. The finding that the slowing of relaxation was greater in the patient (329 ms versus 138 +/- 20 ms) suggests that there was a further reduction of SR-Ca2+ATPase activity in the patient's muscle during fatigue. Following a voluntary contraction, involuntary activity of the antagonist muscles facilitated force decline and masked the impaired relaxation in the patient. This antagonist-induced relaxation indicates that it might be difficult to establish impaired muscle relaxation with voluntary contractions.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Calcium-Transporting ATPases / deficiency
  • Calcium-Transporting ATPases / genetics*
  • Electromyography
  • Humans
  • Male
  • Muscle Contraction / physiology
  • Muscle, Skeletal / physiology
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics*
  • Sarcoplasmic Reticulum / enzymology*

Substances

  • Calcium-Transporting ATPases