Spinal muscular atrophy with progressive myoclonic epilepsy

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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] Only 12 known 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 to 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 which is an enzyme found in lysosomes. The lysosome breaks down acid ceramidase and the fatty acid component [6] is then used to produce myelin. Myelin is a coating around the nerves in the body which help transfer signals from nerve cell to nerve cell and increase transmission rate.[7] In patients with SMA-PME, the cermidase function is reduced to only be 33.33% effective.[2] The lack of myelin resulting from the lack of acid ceramidase break down leads to nerve cell damage.

See also


Further reading

External links

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