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Diabetic Cidp-Like Neuropathy in a Pazient With Becker’s Myotonia

Author(s): Stefano Zoccolella, Nicola Pietrafusa, Paola Vincenza Mancino, Concetta Luisi, Carla Tortorella

Becker’s disease (BM) is an autosomal recessive congenital myotonia, characterized by impaired muscle relaxation after voluntary contraction and variable degrees of muscle weakness. BM is caused by mutations in CLCN1 gene on chromosome 7q35 encoding the major skeletal muscle chloride channel CLC-1. Although neuropathy has been associated with myotonic dystrophy, to date no case of neuropathy during the course of BM has been reported. Herein we describe the case of a patient with BM and diabetes who progressive gait disturbance, distal paresthesias, muscle weakness. Neurophysiological assessment and diagnostic lumbar puncture revealed the presence of a chronic inflammatory demyelinating neuropathy. The case here presented developed a diabetic chronic demyelinating inflammatory neuropathy resembling CIDP during the course of BM. The most consistent hypothesis explaining such an unusual association is that the inflammatory neuropathy is related to the concomitant occurrence of diabetes.

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