Refining the spinal and bulbar muscular atrophy phenotype

Takeaway

  • Magnetic resonance imaging (MRI) reveals a diffuse muscle involvement pattern in spinal and bulbar muscular atrophy (SBMA), which could facilitate its diagnosis.

Why this matters

  • Gaining a more detailed phenotypic description for SBMA is essential to aid diagnosis, improve clinical follow-up, and develop better clinical outcome measures in drug trials.