Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
MDDGA1

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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%)
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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
Elevated creatine kinase (CK) levels circulatory 100 % 19299310 2024-05-13
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