Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C |
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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
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| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Cardiomyopathy | circulatory | 100 % | 31266720 | 2024-05-09 | |
| Limb-girdle weakness | multi | 100 % | 31266720 | 2024-05-09 | |
| Increased blood CK | circulatory | 100 % | 31266720 | 2024-06-14 | |
| Muscle atrophy | skeletal | 100 % | 31266720 | 2024-05-09 | |
| Muscle weakness | skeletal | 100 % | 31266720 | 2024-05-09 | |
| Hypokinetic left ventricle | circulatory | 100 % | 31266720 | 2024-05-09 | |
| Reduced left ventricular ejection fraction | circulatory | 100 % | 31266720 | 2024-05-09 | |
| Alpha-dystroglycan deficiency | skeletal | 100 % | 31266720 | 2024-05-09 | |
| Fiber-size variation | skeletal | 100 % | 31266720 | 2024-05-09 | |
| Scapular winging | multi | 100 % | 31266720 | 2024-05-09 | |
| non-walking | multi | 100 % | 31266720 | 2024-05-09 | |
| Myopathy | skeletal | 50 % | 31266720 | 2024-05-09 | |
| Seizures | nervous | 50 % | 31266720 | 2024-05-09 | |
| Stroke | circulatory | 50 % | 31266720 | 2024-05-09 | |
| Pyramidal signs | nervous | 50 % | 31266720 | 2024-05-09 | |
| Syncope | multi | 50 % | 31266720 | 2024-05-09 | |
| Dyspnoea | respiratory | 50 % | 31266720 | 2024-05-09 |
List of references:
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
J Svahn, P Laforêt, C Vial, N Streichenberger, N Romero, C Bouchet-Séraphin, A Bruneel, T Dupré, N Seta, R Menassa, L Michel-Calemard, T Stojkovic,
Neuromuscular disorders : NMD - Jul 2019