Facioscapulohumeral Dystrophy Workup

Updated: Mar 19, 2019
  • Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD  more...
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Workup

Laboratory Studies

Serum creatine kinase levels are elevated.

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Imaging Studies

Imaging studies show a selective destructive process involving the anterior compartment muscles of the leg. Hypertrophy of the psoas muscles also is observed occasionally. [9, 10]

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Other Tests

See the list below:

  • FSHD gene testing

  • Electrodiagnostic studies; these may reveal myopathic potentials. Focal neuropathies and occasionally a brachial plexopathy may be seen as a result of stretch injury.

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Procedures

Muscle biopsy: If results of genetic testing for FSHD are negative, a muscle biopsy is strongly recommended to rule out other conditions that mimic FSHD.

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Histologic Findings

See the list below:

  • Muscle

    • Multifocal distribution

    • Fiber size variation with central nuclei

    • Endomysial connective tissue proliferation

    • Regenerating, moth-eaten fibers and muscle fibers undergoing phagocytosis

    • Isolated angular atrophic fibers

    • Rimmed vacuoles

    • Focal inflammation in perivascular and perimysial distributions

    • Muscle fibers expressing membrane attack complex

    • Muscle fibers expressing class 1 major histocompatibility antigen

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