| Remarks |
Clinically affected; progressive muscle weakness, proximal greater than distal; increasing weakness of upper and lower extremities; normal copy number of SMN1 and SMN2; whole blood genomic DNA sequencing of GNE coding region did not reveal any pathogenic variants; surgical neuropathology report for left quadriceps skeletal muscle biopsy at 47 years of age revealed primary myopathy with changes suggestive of hereditary inclusion body myopathy - rimmed vacuoles, fibers undergoing degeneration; absence of inflammatory infiltrate exclude possibility of inclusion body myositis and suggest the hereditary form of disease; morphology and histochemistry suggest mild denervation; H&E staining revealed variation the diameter of the muscle fibers with the large majority within a relatively narrow range (40-75 micrometers) and some markedly atrophic fibers - some with angulated profiles on cross sections and a few extremely atrophic appearing as small "nuclear bags"; other cytologic abnormalities include myofiber necrosis, phagocytosis, inclusion bodies, basophilic fibers with regeneration and other unidentified abnormalities; no significant fibrosis in the endomysium and perimysium; no inflammatory infiltrates, vasculitis, or granulomas; PAS and oil red O staining reveal normal amounts of glycogen and neutral lipids; histochemical staining for activity of ATPase and NADH revealed normal demarcation between type 1 and type 2 fibers; dark atrophic fibers were seen in sections stained for NADH activity, sometimes with angulated profiles on cross sections; immunoperoxidase stainings for sarcoglycans (alpha, delta, and beta), merosin, emerin, desmin, dystroglycan, myotillin, dysferlin, and spectrin show a normal membranous reaction pattern; Chron's disease; problems with a lumbar disc resulted in ordering of orthotics; family history for neuromuscular disease in: father, brother, paternal uncle and aunt, paternal grandmother, two paternal male cousins; two unaffected paternal cousins, unaffected fraternal twin; medications: Lamictal XR, Fluoxetine, Trazodone, Diovan HCT, Fish oil, Cyanocobalm |