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.
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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