Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This is caused by mutations in the ASAH1 gene. Fully referenced neurology checklist.
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
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Electroencephalogram (EEG): features
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Other investigations
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Treatment
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References
- 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.
- 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.
- 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.
- Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018; 13:121.
- 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.
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