What is the role of biopsy in the workup of arthrogryposis multiplex congenita (AMC)?

Updated: Nov 11, 2020
  • Author: Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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See the list below:

  • Skin biopsy -.This is rarely performed, being carried out if the patient has a history of intellectual disability with no known diagnosis.

  • Muscle biopsy

    • Muscle biopsy is probably the most important diagnostic procedure. It should be included in all autopsies and at time of surgery.

    • Distinguish myopathic from neuropathic conditions by obtaining muscle specimens from normal and affected areas.

    • Special histopathologic and electron micrographic studies are used to evaluate fatty and connective tissue replacement of muscle fibers and variations in fiber size, such as decreased fiber diameter. All are nonspecific signs of muscle atrophy.

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