Spinal muscular atrophy with progressive myoclonic epilepsy

Spinal muscular atrophy with progressive myoclonic epilepsy, abbreviated SMA-PME and sometimes called Jankovic-Rivera syndrome, is a very rare neurodegenerative disease. Its symptoms include slowly progressive loss of muscle, mainly in the proximal muscles, together with denervation and myoclonic seizures. Only twelve human families are described in the scientific literature as having it. It is associated with a missense mutation or a deletion in exon 2 of the ASAH1 gene, which codes for acid ceramidase, a lysosomal enzyme involved in producing the fatty acid component used to make myelin, and it is inherited in an autosomal recessive manner. It is closely related to a lysosomal disorder called Farber lipogranulomatosis. As with many genetic disorders, no cure is known. American researchers Joseph Jankovic and Victor M. Rivera first described the condition in 1979. The atlas records what is described in the literature and gives no medical advice.