Curschmann-Batten-Steinert Syndrome
UMLS: C0027126
Basic Information
Severity Level:
Critical
Based on 2 similar ADEs (max similarity: 0.402)
Definition:
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
UMLS ID:
C0027126
MeSH ID:
Synonyms:
Curschmann-Batten-Steinert Syndrome
Dm - Dystrophia Myotonica
Dystrophy, Myotonic
Dystrophia Myotonica
Muscular Dystrophy Myotonic
Myotonic Muscular Dystrophy
Myotonia Atrophica
Myotonia Atrophica
Myotonia Dystrophica
Myotonic Dystrophy
Myotonic Dystrophy
Myotonic Muscular Dystrophy
Classification Hierarchy
MeSH Tree Number breakdown for C0027126
C05
Musculoskeletal Diseases
C05.651
Muscular Diseases
C05.651.534
Muscular Disorders, Atrophic
C05.651.534.500
Muscular Dystrophies
C05
Musculoskeletal Diseases
C05.651
Muscular Diseases
C05.651.662
Myotonic Disorders
C05.651.662.750
Myotonic Dystrophy
C10
Nervous System Diseases
C10.574
Neurodegenerative Diseases
C10.574.500
Heredodegenerative Disorders, Nervous System
C10.574.500.547
Myotonic Dystrophy
C10
Nervous System Diseases
C10.668
Neuromuscular Diseases
C10.668.491
Muscular Diseases
C10
Nervous System Diseases
C10.668
Neuromuscular Diseases
C10.668.491
Muscular Diseases
C16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.320
Genetic Diseases, Inborn
C16.320.400
Heredodegenerative Disorders, Nervous System
C16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.320
Genetic Diseases, Inborn
C16.320.577
Muscular Dystrophies
ADE Molecular Mechanism Mapping
Drug-ADE-Human Protein Triplets
Molecular mechanism triplets showing drug-adverse event-protein relationships
0
Total Triplets
0
High Confidence
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Personalized Drug-Protein-ADE Network
Comprehensive Information for Personalized ADE
Comprehensive Information and Reliability for Drug-ADE Association
Drug Confidence Filter
DTA Confidence Level
Layout Style
Show Labels
Total Drugs
49
4 High |
7 Medium |
38 Low Confidence
Total Proteins
3
Target proteins associated with this ADE
Drug-Protein-ADE association
33
0 Known |
0 High |
0 Middle |
33 Low Confidence
Confidence Profile
0%
Known/High/Middle-confidence interactions
This interactive network visualization shows the relationships between the top 50 drugs (ranked by case number) out of 49 total drugs associated with this adverse event, their known and potential off-target proteins, and the associated adverse effect. The connections indicate binding interactions and mechanistic pathways.
Adverse Drug Event (ADE)
Drug
Protein
Drug-Center
Human Protein-Center
confidence level
Drug Confidence Level Distribution
Drug Type Distribution
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Pharmacological Target Class Distribution
Top 8 Function Target Sub Classes
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The Introduction of Drug-AE Confidence Score Grade
| Priority Level | Score Range | Description | Evidence Characteristics |
|---|---|---|---|
| High | Score ≥ 6.67High-priority associations requiring immediate attention. | Strong evidence across multiple dimensions with high statistical significance, robust association measures, and substantial case numbers. Warrant priority pharmacovigilance action. | High P-value scores (significant Adjust-P), Strong ROR/PRR values, Substantial case numbers, Complete dimensional coverage, Minimal data filtering needed. |
| Medium | 3.33 ≤ Score < 6.67Medium-priority associations requiring careful evaluation. | Moderate evidence quality with acceptable statistical significance and association strength. May need additional validation or monitoring before definitive action. | Moderate P-value significance, Reasonable ROR/PRR measures, Adequate case numbers, Partial dimensional coverage, Some data quality considerations. |
| Low | Score < 3.33Low-priority associations with limited evidence strength. | May represent weak signals, insufficient data, or associations requiring extensive additional investigation before any regulatory or clinical consideration. | Weak P-value significance, Low association measures, Limited case numbers, Incomplete dimensional data, Significant data filtering applied. |
The Introduction of Drug-AE Severity Score Grade
| Severity Level | Score Range | Description | Typical outcomes |
|---|---|---|---|
| Minimal | 0 ≤ Score ≤ 0.387 Low severity ADRs requiring minimal intervention. | Events that need medical attention to prevent permanent damage but without hospitalization or life-threatening consequences. | Primarily RI (Required Intervention) outcomes, Outpatient management, Preventive measures, Early intervention prevents escalation. |
| Mild | 0.387 < Score ≤ 0.861 Mild severity events requiring hospitalization. | Mix of intervention-required and hospitalization cases with manageable clinical outcomes and good recovery potential. | Mix of RI and HO outcomes, Initial or prolonged hospitalization, Active medical management, Generally favorable prognosis. |
| Moderate | 0.861 < Score ≤ 1.500 Moderate ADRs resulting in permanent disability. | Higher proportion of hospitalization and disability cases requiring intensive medical management and long-term care planning. | Increased HO and DS outcomes, Permanent disability, Extended hospitalization, Rehabilitation required, Long-term functional impairment. |
| Severe | 1.500 < Score ≤ 2.52High severity life-threatening events with significant morbidity. | Notable presence of disability and life-threatening outcomes requiring emergency intervention and intensive care management. | Prominent DS and LT outcomes, Life-threatening events, Emergency intervention required, ICU admission, High risk of permanent consequences. | Critical | 2.524 < Score ≤ 5.000Critical life-threatening or fatal ADRs with maximum clinical impact. | High proportion of life-threatening events and deaths with very strong drug-event associations requiring immediate regulatory action. | Significant LT and DE outcomes, Fatal events, Emergency life-support measures, Immediate drug discontinuation, Regulatory safety alerts. |
The Introduction of Drug-AE-Protein Confidence Score Grade
| Confidence Level | Relationships | Description | Evidence Types |
|---|---|---|---|
| Known/Valid | Direct DTA relationships | The drug-ADE, drug-target, and target-ADE associations are all derived from the same literature source. | Experimental validation, Clinical evidence |
| High | DT + TA + DA | Two of the three associations (drug-ADE, drug-target, and target-ADE) are derived from the same literature source, while the third is validated by other literature. | Multiple corroborating sources |
| Medium | DT + TA + DA | Two of the three associations (drug-ADE, drug-target, and target-ADE) are validated by separate literature sources. | Partial evidence chain |
| Low | TA + DT | Only target-ADE and drug-target associations are validated by literature sources. | Associative evidence only |
Personalized ADE
Route and Formulation-specified Associations
Pharmaceutic Granularity for Route and Formulation specification
Administration Routes (Total: 43 cases across 4 routes)
Dosage Forms (Total: 16 cases across 3 forms)
Drug Route Analysis
Drug Form Analysis
Drug Route Analysis
| Route | Drug Name | Case Number | Confidence Score | Confidence Level | Severity Score | Severity Level | Details | ||
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Drug Form Analysis
| Form | Drug Name | Case Number | Confidence Score | Confidence Level | Severity Score | Severity Level | Details | ||
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Disease-stratified Associations
Personalized Granularity for Disease and Indication Stratification
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Indication Name
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Drug Name
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Case Number
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Confidence Score
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Confidence Level
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Severity Score
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