Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
Add new symptom/sign to this disease
| 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 |
| Microcephaly | nervous | 100 % | 19299310 | 2024-05-13 | |
| non-walking | multi | 100 % | 19299310 | 2024-05-13 | |
| Increased blood CK | circulatory | 100 % | 19299310 | 2024-06-14 | |
| Dystrophic muscle biopsy with reduced α-DG | skeletal | 100 % | 19299310 | 2024-05-13 | |
| Seizures | nervous | 50 % | 19299310 | 2024-05-13 | |
| Myopia | nervous | 50 % | 19299310 | 2024-05-13 |
List of references:
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
E Mercuri, S Messina, C Bruno, M Mora, E Pegoraro, G P Comi, A D'Amico, C Aiello, R Biancheri, A Berardinelli, P Boffi, D Cassandrini, A Laverda, M Moggio, L Morandi, I Moroni, M Pane, R Pezzani, A Pichiecchio, A Pini, C Minetti, T Mongini, E Mottarelli, E Ricci, A Ruggieri, S Saredi, C Scuderi, A Tessa, A Toscano, G Tortorella, C P Trevisan, C Uggetti, G Vasco, F M Santorelli, E Bertini,
Neurology - May 2009