What is integrin-alpha7 deficiency congenital muscular dystrophy (CMD)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

This rare disorder has been described in only a few children, who presented with hypotonia in infancy and delayed motor milestones (eg, walked at age 2-3 y).

One patient had mental retardation, and another had contractures and respiratory failure.

One patient has been followed longitudinally and required noninvasive ventilation at age 8 years and became wheelchair bound at age 12 years. [12]


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