Prognostic factors in mild dystrophinopathies

C. Angelini, M. Fanin, M. P. Freda, F. Martinello, M. Miorin, P. Melacini, G. Siciliano, E. Pegoraro, M. Rosa, G. A. Danieli

Research output: Contribution to journalArticle

Abstract

One hundred twenty-five patients from 105 families were considered, showing in-frame intragenic deletion or duplication of the dystrophin gene and/or abnormal dystrophin on muscle biopsy. According to clinical status of patients, the affection was classified as subclinical, benign, moderate or severe. Significant decrease of dystrophin abundance was observed with increasing clinical severity (p <0.05). Detailed clinical data were available in 68 patients in whom a long-term follow-up (6-39 years) was obtained. Functional performance at different ages and disease endpoints were recorded in order to analyze the rate of disease progression. We identified three different disease courses: stable, slow and rapid progression. We observed a significantly lower level of dystrophin and immunohistochemical score (p <0.05 vs. the other courses) in patients with rapid course. Deletion or duplication in the 5' end of the gene was associated with poor prognosis. Prognosis was substantially better, showing a stable course, in patients with large deletions or duplications in the proximal rod region. These subjects often suffered from a cramps/myalgia syndrome or experienced rhabdomyolisis. Cardiac involvement was detected in 65% of cases. A significant increase of right ventricular volume was seen in all clinical groups (p <0.05). A left ventricular dilation was observed in 25% and a decreased ejection fraction in 29% of our patients. The reduction of ejection fraction and the increase of left ventricular volume were age-related. Since sudden death may occur as a consequence of cardiomyopathy, severe left ventricular dysfunction in dystrophinopathic patients is another important adverse prognostic factor, although not always directly correlated with skeletal muscle impairment.

Original languageEnglish
Pages (from-to)70-78
Number of pages9
JournalJournal of the Neurological Sciences
Volume142
Issue number1-2
DOIs
Publication statusPublished - Oct 1996

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Keywords

  • Becker muscular dystrophy
  • dystrophin
  • prognosis

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

Cite this

Angelini, C., Fanin, M., Freda, M. P., Martinello, F., Miorin, M., Melacini, P., Siciliano, G., Pegoraro, E., Rosa, M., & Danieli, G. A. (1996). Prognostic factors in mild dystrophinopathies. Journal of the Neurological Sciences, 142(1-2), 70-78. https://doi.org/10.1016/0022-510X(96)00144-X