Severe Focal Abdominal Weakness Presenting as an Abdominal Hernia
Maria Emily Mesa1, Cole Zeh2, Tanner Korponay1
1Department of Physical Medicine and Rehabilitation, Albany Medical College, Albany.
Summary
Facioscapulohumeral dystrophy type 1 (FSHD1) can present unusually with an abdominal mass due to muscle weakness. Early recognition of this rare presentation aids timely diagnosis and management of FSHD1.
Area of Science:
- Neurology
- Genetics
- Musculoskeletal Disorders
Background:
- Facioscapulohumeral dystrophy type 1 (FSHD1) is a genetic myopathy characterized by progressive muscle weakness.
- FSHD1 typically affects facial, shoulder, and upper limb muscles, with variable presentation.
- Abdominal muscle involvement in FSHD1 is common but rarely the primary presenting symptom.
Purpose of the Study:
- To report a case of FSHD1 presenting primarily as a chronic abdominal mass.
- To highlight the importance of considering neuromuscular disorders in cases of unexplained abdominal masses.
- To emphasize the variable and asymmetrical nature of FSHD1 presentation.
Main Methods:
- Case report of a 56-year-old female with a chronic right-sided abdominal mass.
- Initial evaluation included computed tomography (CT) scan and physical examination.
- Electrodiagnostic studies (EDX) and genetic testing for D4Z4 gene contraction were performed.
Main Results:
- CT scan revealed abdominal muscle wasting and wall outpouching, not a true hernia.
- EDX showed myotonic discharges and low-amplitude motor unit potentials.
- Genetic testing confirmed FSHD1 due to D4Z4 gene contraction.
Conclusions:
- This case illustrates that FSHD1 can present with an abdominal mass as the initial chief complaint.
- Recognizing the diverse and asymmetrical manifestations of FSHD1 is crucial for prompt diagnosis.
- Timely diagnosis of FSHD1 can lead to better patient outcomes and avoid extensive, unnecessary investigations.
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