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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 34A0 Case 34 History
The patient is a 75-year-old man with CPEO, myalgias and facial stiffness, dysphagia, and dyspnea. Electrodiagnostic testing showed a non-irritable myopathy. GDF15 is elevated. Serum showed no autoantibodies and a normal NfL. Genetic testing showed a single pathogenic intronic variant in GAA and a PLEC VUS. The patient has had a prior muscle biopsy and that report describes neurogenic atrophic changes, but no inflammatory infiltrate or myopathic changes to support a diagnosis of myositis. There has also been positive anti-GAD serology suggesting a diagnosis of stiff person syndrome, and the patient has been treated with IVIG.
