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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 37A0 Case 37 History
Case 37 History ---- The patient is a 73-year-old man with with progressive camptocormia, dysphagia, facial weakness, and distal sensory loss for about 2 years. He reports that his brothers have similar symptoms. He was also noted to have sensory loss on examination, although he does not notice any numbness or paresthesias. Query neuropathy and myopathy. EMG/NCS shows evidence of an irritable axial myopathy, based on fibrillation potentials/positive sharp waves and myopathic motor units with early recruitment patterns in the paraspinal muscles and the left trapezius. There were no findings of myopathy in the left upper and lower limb muscles that were studied. There is also evidence of a length-dependent sensorimotor axonal polyneuropathy, based on absent sural sensory responses with a preserved left superficial radial sensory response; small or absent motor responses recorded from the foot with preserved responses from the tibialis anterior and left hand; and EMG findings of ongoing and chronic neurogenic changes in a length-dependent pattern. The borderline prolonged left median sensory onset latency and small median SNAP could be related to the polyneuropathy or to left carpal tunnel syndrome. Genetic testing showed a VUS in PHKA1. Serum NfL was normal for age at 26 pg/mL and no neuropathy or myopathy autoantibodies were present. ANA is 1:320. Muscle enzymes are normal.Operative Procedure: muscle biopsy, left paraspinal and left trapezius.
