Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

Genetics

• This is caused by mutations in the ASAH1 gene
• The gene encodes acid ceramidase (ACDase)
• The transmission is autosomal recessive
• The mutation may also cause SMA without PME
• It is allelic with Farber disease
• The onset is in childhood

Clinical features

Electroencephalogram (EEG): features

Other investigations

Treatment

References

1. Yildiz EP, Yesil G, Bektas G, et al. Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. Clin Neurol Neurosurg 2018; 164:47-49. 
2. Gan JJ, Garcia V, Tian J, et al. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. Neuromuscul Disord 2015; 25:959-963. 
3. Filosto M, Aureli M, Castellotti B, et al. ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study. Eur J Hum Genet 2016; 24:1578-1583.
4. Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018; 13:121. 
5. Rubboli G, Veggiotti P, Pini A, et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy: a rare condition caused by mutations in ASAH1. Epilepsia 2015; 56:692-698.
6. And 1 more. Subscribe to see the full list

Related checklists

• Distal spinal muscular atrophy (distal SMA)
• Autosomal dominant spinal muscular atrophy (SMA)
• Spinal muscular atrophy lower extremity dominant (SMALED)
• Spinal muscular atrophy (SMA): miscellaneous variants