Working Diagnosis:
Miyoshi Myopathy.
Treatment:
Currently, there is no treatment or cure for Miyoshi Myopathy. Goals of care include preserving function and preventing decline through gentle physical therapy, mechanical bracing, emotional support, and a multi-disciplinary approach to treating future complications. There are also some cases of cardiac problem such as dilated cardiomyopathy in ANO5 mutations, so referral was placed to cardiology.
Outcome:
A lace-up ankle brace was given to provide ankle support, and was referred to physical therapy for teaching of gentle shoulder stabilization exercises.
<br>His left shoulder symptoms are most likely caused an impingement syndrome, but progression of his myopathy to upper extremities cannot be excluded. To continue with conservative treatment.
Author's Comments:
Currently, there is no treatment or cure for Miyoshi Myopathy. Goals of care will include preserving function and preventing decline through physical therapy, mechanical bracing, emotional support, and a multi-disciplinary approach to treating future complications.
Editor's Comments:
rare disease; interesting presentation
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