<unk>  (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly<unk>  muscle wasting<unk> , predominantly affecting proximal muscles, combined with denervation and<unk>  seizures. Only 12 known families are described in scientific literature to have SMA-PME. 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. SMA-PME is closely related to a lysosomal disorder disease called Farber lipogranulomatosis. 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.
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