Spinal muscular atrophy with progressive myoclonic epilepsy
| Spinal muscular atrophy with progressive myoclonic epilepsy | |
|---|---|
| Other names | Hereditary myoclonus-progressive distal muscular atrophy syndrome |
 | |
| This condition is inherited in an autosomal recessive manner | |
| Specialty | Neurology |
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare
myoclonic seizures.[1] Only 12 known human families are described in scientific literature to have SMA-PME.[2]
SMA-PME is associated with a
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
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
- PMID 12571787.
- ^ a b Reference, Genetics Home. "Spinal muscular atrophy with progressive myoclonic epilepsy". Genetics Home Reference. Retrieved 2018-09-24.
- PMID 22703880.
- S2CID 25574559.
- S2CID 34843480.
- PMID 17064658.
- ^ Morell, Pierre; Quarles, Richard H. (1999). "The Myelin Sheath". Basic Neurochemistry: Molecular, Cellular and Medical Aspects. 6th Edition.
Further reading
- National Institutes of Health (December 2013). "Genetics Home Reference: Spinal muscular atrophy with progressive myoclonic epilepsy".