Volume : VI, Issue : XI, November - 2017

FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY : A DIAGNOSTIC DILEMMA

Dr. Mohit K Srivastava

Abstract :

 BACKGROUND - Facioscapulohumeral dystrophy (FSHD) is often cited as the third most common form of muscular dystrophy. However, supportive measures involving physical therapy and the use of orthotics may aid in improving function and mobility.

CASE SUMMARY –  The patient is a 15-year-old right-handed male who presented with some right lower extremity weakness and atrophy. During the review of symptoms, the patient added difficulty lifting his arms overhead and a “crooked” smile to the list of complaints. The physical examination noted an asymmetric smile, both sided lateral scapular winging, and a steppage gait. Furthermore, atrophy of the right pectoralis major, trapezius, and gastrocnemius muscles were noted. In addition, atrophy of the bilateral tibialis anterior muscles was noted as well. Given that the results of the electrodiagnostic testing were consistent with a myopathic disorder, facioscapulohumeral dystrophy (FSHD) was suspected and genetic testing was ordered to confirm the diagnosis.

CONCLUSION - Individuals with FSHD should be seen at a frequency based on their disease severity, which for some will be frequent initially, and may include occupational and speech therapy in infantile onset forms of FSHD. Physical therapy and rehabilitation consultations can help establish appropriate exercise regimens and assistive devices that may enhance mobility and reduce the risk of falls in home environments.

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Article: Download PDF    DOI : https://www.doi.org/10.36106/gjra  

Cite This Article:

Dr. Mohit K Srivastava, FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY : A DIAGNOSTIC DILEMMA, GLOBAL JOURNAL FOR RESEARCH ANALYSIS : VOLUME-6, ISSUE-11, NOVEMBER-2017

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