Medicine:Spinal muscular atrophy with progressive myoclonic epilepsy

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Short description: Rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting
Spinal muscular atrophy with progressive myoclonic epilepsy
Other namesHereditary myoclonus-progressive distal muscular atrophy syndrome
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner
SpecialtyNeurology

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 (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures.[1] Only 12 known human families are described in scientific literature to have SMA-PME.[2]

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.[3] SMA-PME is closely related to a lysosomal disorder disease called Farber lipogranulomatosis.[4] As with many genetic disorders, there is no known cure for SMA-PME.

The condition was first described in 1979 by American researchers Joseph Jankovic and Victor M. Rivera.[5]

ASAH1 gene

The ASAH1 gene codes for acid ceramidase, an enzyme found in lysosomes. The lysosome breaks down acid ceramidase; the fatty acid component [6] is then used to produce myelin. Myelin is an insulating coating around the neurons in the body which helps to contain bioelectrical signals along a nerve cell's axon and increase transmission rate.[7] In patients with SMA-PME, the ceramidase function decreases to 33.33% effective.[2] The lack of myelin resulting from the lack of acid ceramidase breakdown leads to nerve cell dysfunction.[citation needed]

See also

References

  1. ↑ Haliloglu, G.; Chattopadhyay, A.; Skorodis, L.; Manzur, A.; Mercuri, E.; Talim, B.; Akçören, Z.; Renda, Y. et al. (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. 
  2. ↑ 2.0 2.1 Reference, Genetics Home. "Spinal muscular atrophy with progressive myoclonic epilepsy" (in en). https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy#genes. 
  3. ↑ Zhou, J.; Tawk, M.; Tiziano, F. D.; Veillet, J.; Bayes, M.; Nolent, F.; Garcia, V.; Servidei, S. et al. (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. PMID 22703880. 
  4. ↑ Gan, Joanna J.; Garcia, Virginie; Tian, Jane; Tagliati, Michele; Parisi, Joseph E.; Chung, Jeffrey M.; Lewis, Richard; Baloh, Robert et al. (2015-12-01). "Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy" (in en). Neuromuscular Disorders 25 (12): 959–963. doi:10.1016/j.nmd.2015.09.007. ISSN 0960-8966. PMID 26526000. 
  5. ↑ 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. 
  6. ↑ Park, Jae-Ho; Schuchman, Edward H. (December 2006). "Acid ceramidase and human disease". Biochimica et Biophysica Acta (BBA) - Biomembranes 1758 (12): 2133–2138. doi:10.1016/j.bbamem.2006.08.019. ISSN 0006-3002. PMID 17064658. 
  7. ↑ Morell, Pierre; Quarles, Richard H. (1999). "The Myelin Sheath" (in en). Basic Neurochemistry: Molecular, Cellular and Medical Aspects. 6th Edition. https://www.ncbi.nlm.nih.gov/books/NBK27954/. 

Further reading

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