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Prevalence (%) of clinical parameters based on data from 1 references describing 8 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 |
| Muscle weakness | skeletal | 100 % | 20428114 | 2020-01-24 | |
| Motor neuron degeneration | nervous | 100 % | 20428114 | 2020-01-25 | |
| Dysphagia | nervous | 75 % | 20428114 | 2020-01-24 | |
| Dysarthria | nervous | 63 % | 20428114 | 2020-01-24 | |
| Fasciculations | nervous | 50 % | 20428114 | 2020-01-24 | |
| Hyperactive reflexes | nervous | 38 % | 20428114 | 2020-01-24 | |
| Muscle atrophy | nervous | 25 % | 20428114 | 2020-01-24 |
List of references:
Mutations of optineurin in amyotrophic lateral sclerosis.
Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, Yuishin Izumi, Hidemasa Kato, Yasuhito Watanabe, Yoshimi Kinoshita, Masaki Kamada, Hiroyuki Nodera, Hidenori Suzuki, Osamu Komure, Shinya Matsuura, Keitaro Kobatake, Nobutoshi Morimoto, Koji Abe, Naoki Suzuki, Masashi Aoki, Akihiro Kawata, Takeshi Hirai, Takeo Kato, Kazumasa Ogasawara, Asao Hirano, Toru Takumi, Hirofumi Kusaka, Koichi Hagiwara, Ryuji Kaji, Hideshi Kawakami,
Nature - May 2010