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Facioscapulohumeral Dystrophy Workup

  • Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD  more...
 
Updated: Oct 16, 2014
 

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.[7]

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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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Contributor Information and Disclosures
Author

Naganand Sripathi, MD Director, Neuromuscular Clinic, Department of Neurology, Henry Ford Hospital

Naganand Sripathi, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, Michigan State Medical Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Additional Contributors

James J Riviello, Jr, MD George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital

James J Riviello, Jr, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Partner received royalty from Up To Date for section editor.

References
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