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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 29A0 Case 29 History - Copy
Case 29 History ---- The patient is a 66-year-old woman with a history of progressive bilateral ptosis and ophthalmoparesis of at least 5 year duration which is largely symmetric without clear fluctuating symptoms (atypical for myasthenia gravis). ACHR/MuSK antibodies were negative in the past. Clinical presentation appears most consistent with chronic progressive external ophthalmoplegia (CPEO). There is a history of ptosis requiring eye surgery in the patient's mother raising the possibility of an inherited etiology with either an autosomal dominant or mitochondrial inheritance pattern. She has had gene sequencing through Athena including common nuclear DNA mutations associated with CPEO (POLG, ANT1, OPA1, and Twinkle) and what appears to be a limited mtDNA point mutation analysis ("Detects six mtDNA point mutations linked to MELAS syndrome”), but has not undergone mtDNA deletion/duplication analysis to evaluate for the mtDNA deletions or duplications commonly associated with CPEO. She does also have some distal sensory loss consistent with likely mild peripheral neuropathy and additional diagnostic workup for mitochondrial myopathy including likely muscle biopsy and expanded genetic testing with mtDNA deletion/duplication analysis is performed. Operative procedure: R deltoid biopsy (History from NM Division)
