Bilateral Foot Drop secondary to Nonaka Myopathy
48 yr old lady, difficulty in climbing stairs x 8 months. CPK 100 Ul/l, foot wear slips off. On examination with bilateral foot drop.
EMG show EMG shows Complex repetitive discharges in the left TA. Genetic testing is positive for GNE. Final Dx- Heterozygous Autosomal recessive Nonaka myopathy. GNE myopathy, also known as HIBM, Nonaka myopathy, IBM2 and distal myopathy with rimmed vacuoles. These patients exhibit a characteristic bilateral foot drop.
Dr. Boby Varkey Maramattom @bobvarkey
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