Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome.
BACKGROUND
Spinal muscular atrophies (SMAs) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, in some cases, patients may show associated, atypical clinical features ("SMA plus"). In particular, the association of SMA and progressive myoclonic epilepsy (PME) has been rarely described.


METHODS
We present the clinical and electrophysiological data of a boy with childhood-onset SMA associated with PME and reviewed cases of the literature.


CONCLUSIONS
The association of SMA with PME may constitute a separate and, probably, genetically independent syndrome with unique clinical and electroencephalographic findings or, at least, a variant of a neurodegenerative or metabolic disease, due to yet unknown causes.
Striano
Pasquale
P
Department of Neurological Sciences, Epilepsy Center, Federico II University, Via Pansini 5, 80131 Naples, Italy.
Boccella
Patrizia
P
Sarappa
Chiara
C
Striano
Salvatore
S
D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000033:anatomy & histology; D002648:Child; D002998:Clonazepam / Q000627:therapeutic use; D004569:Electroencephalography; D004576:Electromyography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012720:Severity of Illness Index; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000175:diagnosis*
D000927:Anticonvulsants; D002998:Clonazepam