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Multifocal motor neuropathy with motor conduction block (MMN) is characterized by slowly progressive, distal, and asymmetrical pure motor dysfunction with no sensory impairment. The hallmark of MMN is the presence of motor conduction block. Diagnosis may be supported by the presence of IgM anti-GM1 ganglioside antibodies.1 Treatment with IV immunoglobulin (IVIg) may result in functional improvement.
The survival motor neuron (SMN) gene exists in two homologous copies (SMN1 and SMN2) and is responsible for spinal muscular atrophy.2 The homozygous absence of SMN2 has been reported in control populations2 and has been postulated as a possible susceptibility factor in sporadic, adult-onset lower motor neuron disease (LMND)3 and as a prognostic factor in patients with sporadic ALS.4
We investigated whether a defect in the SMN2 gene is associated with MMN.
Methods.
All patients were diagnosed with MMN based on clinical features and the presence of motor conduction blocks defined by established criteria.5 Exclusion criteria were presence of sensory signs or symptoms, respiratory or bulbar dysfunction, or …
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