Locked-in Syndrome

Alias:
Cerebromedullospinal Disconnection
Locked in Syndrome
Locked-in State
Quadriplegia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Locked-in Syndrome, also known as cerebromedullospinal disconnection, is related to mutism and akinetic mutism, and has symptoms including hemiplegia, ophthalmoplegia and muscle weakness. An important gene associated with Locked-in Syndrome is CBS (Cystathionine Beta-Synthase). The drugs Midodrine and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye and spinal cord, and related phenotypes are spasticity and diplopia
Related ID:
MESH:D000080422
ICD11:17562655

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
All ages
<1/1000000
15
128
--

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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