Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2Y (LGMD2Y)?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
  • Print
Answer

LGMD2Y - Torsin A-interacting protein 1 (TOR1AIP1) (excluded from new classification)

One family described.

Onset in first decade.

Rigid spine and distal contractures.

Cardiomyopthy and respiratory failure.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!