Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association

The association of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, also known as "SMA plus," is a unique syndrome linked to non-survival motor neuron (non-SMN) genes. The disease starts in childhood with progressive weakness and atrophy of muscles; myoclonic epilepsy develops during later childhood, after the onset of motor symptoms. In this report, we describe a case of SMN gene unrelated SMA and myoclonic epilepsy, supported by electrophysiological and neuropathological evidences.