Triple A syndrome mimicking ALS

Amyotroph Lateral Scler. 2008 Oct;9(5):315-7. doi: 10.1080/17482960802259016.


We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Cortex Diseases* / diagnosis
  • Adrenal Cortex Diseases* / physiopathology
  • Amyotrophic Lateral Sclerosis* / diagnosis
  • Amyotrophic Lateral Sclerosis* / physiopathology
  • Chromosome Disorders* / diagnosis
  • Chromosome Disorders* / physiopathology
  • Esophageal Achalasia* / diagnosis
  • Esophageal Achalasia* / physiopathology
  • Female
  • Humans
  • Nerve Tissue Proteins / genetics*
  • Nuclear Pore Complex Proteins / genetics*
  • Syndrome


  • AAAS protein, human
  • Nerve Tissue Proteins
  • Nuclear Pore Complex Proteins