A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy

Neurology. 2005 Apr 26;64(8):1458-60. doi: 10.1212/01.WNL.0000158617.41819.F3.

Abstract

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset (mean age at onset 13 years [8 to 15 years]), and rapid progression leading to compromised ambulation in the mid-20s.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Brain Stem / pathology
  • Brain Stem / physiopathology*
  • Creatine Kinase / blood
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology
  • Genetic Diseases, X-Linked / physiopathology*
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / physiopathology
  • Muscular Atrophy / genetics
  • Muscular Atrophy / pathology
  • Muscular Atrophy / physiopathology
  • Muscular Atrophy, Spinal / genetics
  • Muscular Atrophy, Spinal / pathology
  • Muscular Atrophy, Spinal / physiopathology*
  • Mutation / genetics*
  • Neural Conduction / genetics
  • Pedigree
  • Peripheral Nerves / physiopathology
  • Phenotype
  • Prognosis
  • Spinal Cord / pathology
  • Spinal Cord / physiopathology*
  • Trinucleotide Repeat Expansion / genetics

Substances

  • Creatine Kinase