Coexisting muscular dystrophies and epilepsy in children.
Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy and congenital brain anomalies, including cobblestone complex and other neuronal migration defects. We report generalized convulsive epilepsy in a boy with normal brain magnetic resonance imaging and Duchenne muscular dystrophy with deletion of dystrophin gene, and we report absence epilepsy with normal brain magnetic resonance imaging in another boy with limb girdle muscular dystrophy with partial calpain deficiency. We, therefore, review coexisting muscular dystrophies and epilepsy in children. In addition to Fukuyama congenital muscular dystrophy, partial or generalized epilepsy has also been reported in the following types of muscular dystrophies, including Duchenne/Becker dystrophy, facioscapulohumeral dystrophy, congenital muscular dystrophy with partial and complete deficiency of laminin alpha2 (merosin) chain, and limb girdle muscular dystrophy with partial calpain deficiency.
Tsao
Chang-Yong
CY
Department of Pediatrics, The Ohio State University, Columbus, OH, USA. ctsao@chi.osu.edu
Mendell
J R
JR
D001921:Brain / Q000473:pathology; D002154:Calpain / Q000172:deficiency; D002648:Child; D002872:Chromosome Deletion; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000235:genetics; D004829:Epilepsy, Generalized / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009460:Neurologic Examination
D016189:Dystrophin; D002154:Calpain