Which histologic findings are characteristics of myopathic types of arthrogryposis multiplex congenita (AMC)?

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
  • Print
Answer

Central core disease is a form of arthrogryposis in which the central portion of each muscle fiber contains a zone in which oxidative enzyme activity is absent.

Nemaline myopathy is indicated by abnormal threadlike structures in muscle cells. In type I nemaline myopathy, nemaline rods are present. In type II, the number of fibers with central nuclei is increased.

Congenital muscular dystrophy is indicated by muscle fibers that demonstrate a rounded configuration and conspicuous variation in diameter. Perimysial and endomysial connective tissues are markedly increased.

Mitochondrial cytopathy is indicated by numerous ragged-red fibers on muscle biopsy samples. It is associated with CNS abnormalities consistent with mitochondrial disease.

Myoneural junction abnormality (eg, congenital myasthenia gravis) is another myopathic type of arthrogryposis.


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