Elevated creatine kinase and transaminases in asymptomatic SBMA

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

X-linked spinal and bulbar muscular atrophy (SBMA or Kennedy's disease) has a variable prognosis. Most male carriers are affected by their fourth or fifth decade of life, while some remain asymptomatic lifelong. Elevations of serum creatine kinase are well known to occur in clinically manifesting SBMA patients. Elevations prior to the onset of the clinical syndrome have not been reported. Here we report two cases of SBMA presenting with 'idiopathic' elevations of serum transaminases and creatine kinase a decade in advance of their symptomatic onset. These cases emphasize the need to consider SBMA and genetic testing for the androgen receptor trinucleotide CAG expansion in males otherwise healthy with 'idiopathic' elevated creatinine kinase.

Original languageEnglish (US)
Pages (from-to)62-64
Number of pages3
JournalAmyotrophic Lateral Sclerosis
Volume8
Issue number1
DOIs
StatePublished - Mar 5 2007

Keywords

  • Kennedy's syndrome
  • Spinal and bulbar muscular atrophy
  • Trinucleotide repeats
  • X-linked disorders

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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