congenital muscular dystrophy
Information
- Disease name
- congenital muscular dystrophy
- Disease ID
- DOID:0050557
- Description
- "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." [url:http\://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/, url:https\://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| LMNA | 1 | 156,114,711 | 156,140,081 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01422200 | Completed | Phase 4 | Flu Vaccine Study in Neuromuscular Patients 2011 | August 2011 | May 2012 |
| NCT01805024 | Completed | Phase 1 | Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO) | December 2014 | January 29, 2018 |
| NCT01836627 | Completed | N/A | A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy | April 2013 | May 2016 |
| NCT04001595 | Recruiting | Global FKRP Registry | November 2013 | December 2025 | |
| NCT05102916 | Recruiting | Swiss Registry for Neuromuscular Disorders | June 20, 2018 | January 1, 2071 | |
| NCT05982119 | Recruiting | N/A | Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study | July 10, 2020 | March 2026 |
- Disase is a (Disease Ontology)
- DOID:9884
- Cross Reference ID (Disease Ontology)
- GARD:9138
- Cross Reference ID (Disease Ontology)
- ICD9CM:359.0
- Cross Reference ID (Disease Ontology)
- MIM:254100
- Cross Reference ID (Disease Ontology)
- ORDO:97242
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:193221009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C2937300
- HPO alt_id (Human Phenotype Ontology)
- HP:0003793
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0003741
- OrphaNumber from OrphaNet (Orphanet)
- 97242
- MedGen concept unique identifier (MedGen Concept name)
- C0699743
- MedGen unique identifier (MedGen Concept name)
- 147063