Details of Disease

General Information of Disease (ID: DISB6JN5)

Disease Name Progressive myoclonic epilepsy with dystonia
Synonyms progressive myoclonus epilepsy with dystonia; PMED
Definition
A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
Disease Hierarchy
DISTEZKR: Infantile epilepsy syndrome
DISB6JN5: Progressive myoclonic epilepsy with dystonia
Disease Identifiers
MONDO ID
MONDO_0018126
UMLS CUI
C4706413
MedGen ID
1642042
Orphanet ID
352596
SNOMED CT ID
763349002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TBC1D24 OTKZUSMD Supportive Autosomal recessive [1]
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References

1 Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. J Neurogenet. 2010 Dec;24(4):207-15. doi: 10.3109/01677063.2010.514368.