Disease #01452 (SMAPME (atrophy, muscular, spinal, with progressive myoclonic epilepsy), OMIM:159950)

Official abbreviation SMAPME
Name atrophy, muscular, spinal, with progressive myoclonic epilepsy
OMIM ID 159950
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene ASAH1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-10-22 08:50:49 +02:00 (CEST)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00057784 - PubMed: Zhou 2012 2-generation family, affected child F no Italy - - - - - SMAPME normal early development, progressive muscle weakness; 10y-brief episodes unconsciousness, myoclonic jerks; 11y-diffuse muscle atrophy ASAH1 ASAH1 2 1 Johan den Dunnen
00057787 - PubMed: Zhou 2012 4-generation family, 3 affecteds M yes Turkey - 13y - - - SMAPME proximal weakness, muscular atrophy; EMG chronic denervation; 7y-brief myoclonic seizures; CPK: normal; w14m ASAH1 ASAH1 2 1 Johan den Dunnen
00057788 - PubMed: Zhou 2012 4-generation family, 3 affecteds F yes Turkey - 17y - - - SMAPME myoclonic epilepsy, muscle weakness from chronic denervation; CPK: normal ASAH1 ASAH1 2 1 Johan den Dunnen
00057789 - PubMed: Zhou 2012 4-generation family, 3 affecteds F yes Turkey - 17y - - - SMAPME myoclonic epilepsy, muscle weakness from chronic denervation; CPK: normal ASAH1 ASAH1 2 1 Johan den Dunnen
00057790 - PubMed: Zhou 2012 2-generation family, 2 affecteds F no Italy - >17y - - - SMAPME normal motor/intellectual milestones, progressive muscle weakness (lower then upper limbs); 12y-generalized epileptic seizures, numerous brief episodes unconsciousness, myoclonic jerks ASAH1 ASAH1 2 1 Johan den Dunnen
00057791 - PubMed: Zhou 2012 2-generation family, 2 affecteds F no Italy - >17y - - - SMAPME normal motor/intellectual milestones, progressive muscle weakness (lower then upper limbs); 12y-generalized epileptic seizures, numerous brief episodes unconsciousness, myoclonic jerks ASAH1 ASAH1 2 1 Johan den Dunnen
00163649 van der Beek EJHG 2018 - - F no - - - - - - SMAPME - ASAH1 ASAH1 2 1 Gisèle Bonne
00301412 Fam13Pat13 PubMed: Mahmoud 2020 2-generation family, 2 affected sisters F yes (Egypt) - - - - - SMAPME see paper; ..., moderate; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, seizures ASAH1 ASAH1 1 2 Mohamed A. Elmonem
00334911 PME9 PubMed: Courage 2021, Journal: Courage 2021 - M no Australia - - - - - SMAPME Onset age 10 of multifocal action and rest myoclonus, on a background of normal development and early severe hearing impairment (4y) . Subsequent progressive limb and bulbar weakness, tonic-clonic seiures (16 yr) and late cognitive decline. Rapidly progressive, death age 19. - ASAH1 2 1 Carolina Courage
00359554 177165 - - F - - - - - - - SMAPME (+) Ataxia,(+) Global developmental delay,(+) Profound global developmental delay,(+) Epileptic encephalopathy,(+) Akathisia ASAH1 ASAH1 1 1 Andreas Laner
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