Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 9 |
Contact us |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 |
| Respiratory failure | respiratory | 100 % | 25934851 | 2024-05-14 | |
| Hydrocephalus | nervous | 60 % | 25934851 | 2024-05-14 | |
| Increased blood CK | circulatory | 60 % | 25934851 | 2024-06-14 | |
| Brain calcifications | nervous | 40 % | 25934851 | 2024-05-14 | |
| Areflexia | nervous | 40 % | 25934851 | 2024-05-14 | |
| Microphthalmia | nervous | 20 % | 25934851 | 2024-05-14 | |
| Corneal opacities | nervous | 20 % | 25934851 | 2024-05-14 | |
| Glaucoma | nervous | 20 % | 25934851 | 2024-05-14 | |
| Proptosis | nervous | 20 % | 25934851 | 2024-05-14 | |
| Hypotonia | nervous | 20 % | 25934851 | 2024-05-14 | |
| Occipital encephalocele | nervous | 20 % | 25934851 | 2024-05-14 | |
| Hypertonia | nervous | 20 % | 25934851 | 2024-05-14 | |
| Psychomotor retardation | nervous | 20 % | 25934851 | 2024-05-14 | |
| Myopathy | skeletal | 20 % | 25934851 | 2024-05-14 |
List of references:
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.
Moniek Riemersma, Hanna Mandel, Ellen van Beusekom, Isabella Gazzoli, Tony Roscioli, Ayelet Eran, Ruth Gershoni-Baruch, Moran Gershoni, Shmuel Pietrokovski, Lisenka E Vissers, Dirk J Lefeber, Michèl A Willemsen, Ron A Wevers, Hans van Bokhoven,
Neurology - May 2015