Late-onset distal muscular dystrophy affecting the posterior calves

Jonathan S. Katz, Thomas A. Rando, Richard J. Barohn, David S. Saperstein, Carlayne E Jackson, Matthew Wicklund, Anthony A. Amato

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Miyoshi myopathy, caused by mutations in the membrane protein dysferlin, is the most common muscular dystrophy that presents in the posterior calves. Its onset is before the age of 30 years and it is associated with marked elevations of serum creatine kinase (CK). In contrast, little is known about calf myopathies with onset after the age of 30, and it is not clear whether such patients have a dysferlinopathy. We describe five patients with a myopathy predominantly affecting the calf muscles, with onset after the age of 30. Muscle tissue was analyzed by immunoblot for dystrophin and dysferlin. All five had normal dysferlin but one had a dystrophinopathy. Serum CK levels ranged from 3 to 15 times the upper limit of normal. In contrast, all of 13 patients presenting before age 30 with calf weakness had a dysferlinopathy. Thus, isolated calf atrophy and weakness with onset after age 30, and associated with serum CK levels that are only moderately elevated, represents a distinct myopathy phenotype. Most of these cases are sporadic, although the overall phenotype appears genetically heterogeneous and dysferlinopathy is uncommon.

Original languageEnglish (US)
Pages (from-to)443-448
Number of pages6
JournalMuscle and Nerve
Volume28
Issue number4
DOIs
StatePublished - Oct 1 2003

Fingerprint

Distal Myopathies
Muscular Diseases
Creatine Kinase
Age of Onset
Serum
Phenotype
Muscles
Dystrophin
Muscular Dystrophies
Atrophy
Membrane Proteins
Mutation
Dysferlinopathy

Keywords

  • Calf myopathy
  • Dysferlin
  • Dystrophin
  • Miyoshi myopathy
  • Muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Katz, J. S., Rando, T. A., Barohn, R. J., Saperstein, D. S., Jackson, C. E., Wicklund, M., & Amato, A. A. (2003). Late-onset distal muscular dystrophy affecting the posterior calves. Muscle and Nerve, 28(4), 443-448. https://doi.org/10.1002/mus.10458

Late-onset distal muscular dystrophy affecting the posterior calves. / Katz, Jonathan S.; Rando, Thomas A.; Barohn, Richard J.; Saperstein, David S.; Jackson, Carlayne E; Wicklund, Matthew; Amato, Anthony A.

In: Muscle and Nerve, Vol. 28, No. 4, 01.10.2003, p. 443-448.

Research output: Contribution to journalArticle

Katz, JS, Rando, TA, Barohn, RJ, Saperstein, DS, Jackson, CE, Wicklund, M & Amato, AA 2003, 'Late-onset distal muscular dystrophy affecting the posterior calves', Muscle and Nerve, vol. 28, no. 4, pp. 443-448. https://doi.org/10.1002/mus.10458
Katz JS, Rando TA, Barohn RJ, Saperstein DS, Jackson CE, Wicklund M et al. Late-onset distal muscular dystrophy affecting the posterior calves. Muscle and Nerve. 2003 Oct 1;28(4):443-448. https://doi.org/10.1002/mus.10458
Katz, Jonathan S. ; Rando, Thomas A. ; Barohn, Richard J. ; Saperstein, David S. ; Jackson, Carlayne E ; Wicklund, Matthew ; Amato, Anthony A. / Late-onset distal muscular dystrophy affecting the posterior calves. In: Muscle and Nerve. 2003 ; Vol. 28, No. 4. pp. 443-448.
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