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Washington University Experience | MUSCLE | Nemaline rod myopathy | 7A0 Case 7 History
Case 7 History ---- The patient is a 61-year-old woman who developed an insidious onset of weakness in 2023 (3 years prior), initially presenting with neck extensor, respiratory and proximal muscle weakness followed by mild arm and leg weakness in 2024. Her past medical history is significant for hypertension, type 2 diabetes mellitus, hyperlipidemia (on atorvastatin), and Hodgkin lymphoma status post chemotherapy and radiation (1998). EMG/NCS demonstrated a non-irritable myopathy primarily affecting the paraspinal muscles and sternocleidomastoid, with additional myopathic units in the left deltoid, consistent with a neck-predominant proximal myopathy. Muscle enzymes showed CK 650 and aldolase 9.9. Gammopathy labs were negative on immunotyping, with mildly elevated kappa and lambda free light chains but a normal ratio. Autoimmune studies revealed ESR 36, normal CRP, ANA positive at 1:320 (speckled), negative ENA, and ANCA positive at 1:160 with a c-ANCA pattern and negative MPO and PR3. Myasthenia gravis panel was negative. Genetic testing (Invitae Comprehensive Neuromuscular Panel) showed a VUS in GAA, otherwise negative. WashU Neuromuscular Labs demonstrated myositis WB positivity for Scl-100 antibodies, with otherwise negative myositis and Myopathy 2 panels. Operative procedure: Left deltoid muscle biopsy.
