Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 4 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 13 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 |
| Speech delay | nervous | 100 % | 20620061 | 2024-04-30 | |
| Muscle weakness | skeletal | 100 % | 20620061 | 2024-04-30 | |
| non-walking | nervous | 92 % | 20620061 | 2024-04-30 | |
| Neck weakness | skeletal | 46 % | 20620061 | 2024-04-30 | |
| Seizures | nervous | 31 % | 20620061 | 2024-04-30 |
List of references:
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
Bung Chan Lim, Chang-Seok Ki, Jong-Won Kim, Anna Cho, Min Jung Kim, Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Woong Yang Park, Yun-Jung Lim, In One Kim, Jun Su Lee, Jong Hee Chae,
Neuromuscular disorders : NMD - Aug 2010