Spinal muscular atrophy with progressive myoclonic epilepsy

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Spinal muscular atrophy with progressive myoclonic epilepsy
Classification and external resources
OMIM 159950

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy), predominantly affecting distal muscles, combined with denervation and myoclonic seizures.[1]

SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner.[2] As with many genetic disorders, there is no known cure to SMA-PME.

The condition was first described in 1979 by American researchers Joseph Jankovic and Victor M. Rivera.[3]

See also[edit]

References[edit]

  1. ^ Haliloglu, G.; Chattopadhyay, A.; Skorodis, L.; Manzur, A.; Mercuri, E.; Talim, B.; Akçören, Z.; Renda, Y.; Muntoni, F.; Topaloğlu, H. (2002). "Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy: Report of New Cases and Review of the Literature". Neuropediatrics 33 (6): 314–319. doi:10.1055/s-2002-37087. PMID 12571787.  edit
  2. ^ Zhou, J.; Tawk, M.; Tiziano, F. D.; Veillet, J.; Bayes, M.; Nolent, F.; Garcia, V.; Servidei, S.; Bertini, E.; Castro-Giner, F.; Renda, Y.; Carpentier, S. P.; Andrieu-Abadie, N.; Gut, I.; Levade, T.; Topaloglu, H.; Melki, J. (2012). "Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy is Caused by Mutations in ASAH1". The American Journal of Human Genetics 91 (1): 5–14. doi:10.1016/j.ajhg.2012.05.001. PMC 3397266. PMID 22703880.  edit
  3. ^ Jankovic, J.; Rivera, V. M. (1979). "Hereditary myoclonus and progressive distal muscular atrophy". Annals of Neurology 6 (3): 227–231. doi:10.1002/ana.410060309. PMID 534421.  edit

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