Characterization of the symptoms associated with dural ectasia in the Marfan patient

Jared R.H. Foran, Reed E. Pyeritz, Harry C. Dietz, Paul D. Sponseller

Research output: Contribution to journalArticlepeer-review

Abstract

Dural ectasia, an expansion of the dural sac surrounding the spinal cord, is one of the most common orthopedic manifestations of Marfan syndrome. The purpose of the present study was to characterize the clinical symptoms associated with dural ectasia in patients with Marfan syndrome and to understand the effects of symptomatic dural ectasia on the overall health of affected patients. Twenty-two volunteers aged 9-55 years with Marfan syndrome, and dural ectasia diagnosed by MRI or CT, filled out a "symptoms" questionnaire and completed an SF-36 health survey. Overall, It appears that the symptoms associated with dural ectasia have a marked impact on the overall health of patients with Marfan syndrome. Based on our findings, a "classic" picture of dural ectasia in the Marfan patient may consist of low back pain, headache, proximal leg pain, weakness and numbness above and below the knee, and genital/rectal pain. Symptoms, when present, are typically moderate to severe, occur several times per week (often daily), are commonly exacerbated by upright posture, and are not always relieved by recumbency.

Original languageEnglish (US)
Pages (from-to)58-65
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume134 A
Issue number1
DOIs
StatePublished - Apr 1 2005

Keywords

  • Dural ectasia
  • Marfan syndrome
  • SF-36 health survey

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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