Exercise induced cramps and myoglobinuria in dystrophinopathy - A report of three Malaysian patients

Azlina Ahmad Annuar, Kum Thong Wong, Ai Sze Ching, Meow Keong Thong, Sau Wei Wong, Feizel Alsiddiq, Lai Choo Ong, Khean Jin Goh

Research output: Contribution to journalArticle

Abstract

Dystrophinopathies commonly present as Duchenne or Becker muscular dystrophy but rare, unusual phenotypes have also been described. We have identifi ed three Malaysian boys with an unusual form of dystrophinopathy, presenting with exercise-induced cramps and myoglobinuria, but with no apparent muscle weakness. Immunohistochemistry for dystrophin and genetic analysis confi rmed the diagnosis. The frequency of this phenotype is unknown but there have been several case reports. Consistent with these reports, we also found that two of our patients had deletions in the rod domain of dystrophin, which has been suggested to be associated with this unusual manifestation.

Original languageEnglish
Pages (from-to)125-131
Number of pages7
JournalNeurology Asia
Volume15
Issue number2
Publication statusPublished - Aug 2010

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Myoglobinuria
Muscle Cramp
Dystrophin
Exercise
Phenotype
Duchenne Muscular Dystrophy
Muscle Weakness
Immunohistochemistry

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Annuar, A. A., Wong, K. T., Ching, A. S., Thong, M. K., Wong, S. W., Alsiddiq, F., ... Goh, K. J. (2010). Exercise induced cramps and myoglobinuria in dystrophinopathy - A report of three Malaysian patients. Neurology Asia, 15(2), 125-131.

Exercise induced cramps and myoglobinuria in dystrophinopathy - A report of three Malaysian patients. / Annuar, Azlina Ahmad; Wong, Kum Thong; Ching, Ai Sze; Thong, Meow Keong; Wong, Sau Wei; Alsiddiq, Feizel; Ong, Lai Choo; Goh, Khean Jin.

In: Neurology Asia, Vol. 15, No. 2, 08.2010, p. 125-131.

Research output: Contribution to journalArticle

Annuar, AA, Wong, KT, Ching, AS, Thong, MK, Wong, SW, Alsiddiq, F, Ong, LC & Goh, KJ 2010, 'Exercise induced cramps and myoglobinuria in dystrophinopathy - A report of three Malaysian patients', Neurology Asia, vol. 15, no. 2, pp. 125-131.
Annuar AA, Wong KT, Ching AS, Thong MK, Wong SW, Alsiddiq F et al. Exercise induced cramps and myoglobinuria in dystrophinopathy - A report of three Malaysian patients. Neurology Asia. 2010 Aug;15(2):125-131.
Annuar, Azlina Ahmad ; Wong, Kum Thong ; Ching, Ai Sze ; Thong, Meow Keong ; Wong, Sau Wei ; Alsiddiq, Feizel ; Ong, Lai Choo ; Goh, Khean Jin. / Exercise induced cramps and myoglobinuria in dystrophinopathy - A report of three Malaysian patients. In: Neurology Asia. 2010 ; Vol. 15, No. 2. pp. 125-131.
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