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Spinal muscular atrophy with progressive myoclonic epilepsy

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Spinal muscular atrophy with progressive myoclonic epilepsy

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

References

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