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Open Access Articles- Top Results for Spinal muscular atrophy with progressive myoclonic epilepsy

Spinal muscular atrophy with progressive myoclonic epilepsy

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

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

References

  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. PMID 12571787. doi:10.1055/s-2002-37087.  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. PMC 3397266. PMID 22703880. doi:10.1016/j.ajhg.2012.05.001.  edit
  3. Jankovic, J.; Rivera, V. M. (1979). "Hereditary myoclonus and progressive distal muscular atrophy". Annals of Neurology 6 (3): 227–231. PMID 534421. doi:10.1002/ana.410060309.  edit

External links


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