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Related Concept Videos

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Bones of the Upper Limb: Humerus

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Related Experiment Video

Updated: Jun 30, 2026

Anterior Capsular Reconstruction with Human Dermal Allograft for Irreparable Subscapularis Tears
04:27

Anterior Capsular Reconstruction with Human Dermal Allograft for Irreparable Subscapularis Tears

Published on: May 9, 2025

Facioscapulohumeral dystrophy: case report and discussion.

Vincenzo Castellano1, Joseph Feinberg, Jennifer Michaels

  • 1Department of Physiatry, Hospital for Special Surgery, 535 East 70th Street, New York, NY 10021, USA. castellanov@hss.edu

HSS Journal : the Musculoskeletal Journal of Hospital for Special Surgery
|September 26, 2008
PubMed
Summary

Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy. Early diagnosis through symptom evaluation and genetic testing is crucial for managing this progressive weakness.

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Last Updated: Jun 30, 2026

Anterior Capsular Reconstruction with Human Dermal Allograft for Irreparable Subscapularis Tears
04:27

Anterior Capsular Reconstruction with Human Dermal Allograft for Irreparable Subscapularis Tears

Published on: May 9, 2025

Area of Science:

  • Neurology
  • Genetics
  • Musculoskeletal Disorders

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is the third most prevalent form of muscular dystrophy.
  • It is characterized by progressive muscle weakness, often affecting facial, shoulder, and leg muscles.
  • FSHD should be considered in patients presenting with unexplained progressive weakness.

Observation:

  • A case study of a male patient initially presenting with lower back pain.
  • The patient exhibited progressive weakness in facial, truncal, and leg muscles.
  • Initial symptoms were misattributed, delaying diagnosis.

Findings:

  • Electrodiagnostic testing indicated a myopathic disorder affecting multiple muscle groups.
  • Genetic testing confirmed a FSHD deletion mutation, establishing the diagnosis.
  • The patient's symptoms were consistent with the typical presentation of FSHD.

Implications:

  • Early recognition and diagnosis of FSHD are vital for patient management.
  • While no cure exists, physical therapy and orthotics can improve function.
  • Further research into effective treatments for FSHD is warranted.