What are spinal muscular atrophies?

Updated: Feb 20, 2018
  • Author: Sridharan Ramaratnam, MD, MBBS; Chief Editor: Helmi L Lutsep, MD  more...
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Answer

Spinal muscular atrophies

  • Focal forms of SMA often are isolated cases. When they are hereditary, the genetic profile is highly heterogeneous. [38, 39, 40]

  • Associated features (eg, gynecomastia and testicular atrophy in bulbospinal muscular atrophy; pes cavus in distal SMA) may help pinpoint the diagnosis of the subtypes.

  • The disease does not necessarily evolve, but it may progress to a generalized form.

  • Focal forms may be symmetric, asymmetric, spinal-bulbar, or multisegmental.


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