Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0002123 Generalized myoclonic seizures Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0003457 EMG abnormality Very frequent (99-80%)
HP:0008955 Progressive distal muscular atrophy Very frequent (99-80%)
HP:0000726 Dementia Frequent (79-30%)
HP:0002353 EEG abnormality Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ASAH1 N-acylsphingosine amidohydrolase 1 427