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Prevalence (%) of clinical parameters based on data from 2 references describing 62 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 |
| Cerebellar atrophy | nervous | 100 % | 24814845 | 2014-07-25 | |
| Ataxia | nervous | 100 % | 21595125 | 2014-07-25 | |
| Hypometric saccades | nervous | 94 % | 24814845 | 2014-07-25 | |
| Ataxia | nervous | 89 % | 24814845 | 2014-07-25 | |
| Dysarthria | nervous | 83 % | 24814845 | 2014-07-25 | |
| Nystagmus | nervous | 78 % | 24814845 | 2014-07-25 | |
| Hyperactive reflexes | nervous | 76 % | 21595125 | 2014-07-25 | |
| Ptosis | nervous | 63 % | 24814845 | 2014-07-25 | |
| Ophthalmoplegia | nervous | 61 % | 24814845 | 2014-07-25 | |
| Nystagmus | nervous | 49 % | 21595125 | 2014-07-25 | |
| Ptosis | nervous | 48 % | 21595125 | 2014-07-25 | |
| Pallesthesia | nervous | 45 % | 21595125 | 2014-07-25 | |
| Hyperactive reflexes | nervous | 44 % | 24814845 | 2014-07-25 | |
| Babinski's sign | nervous | 27 % | 21595125 | 2014-07-25 | |
| Extrapyramidal symptoms | nervous | 24 % | 21595125 | 2014-07-25 | |
| Muscle weakness | skeletal | 22 % | 24814845 | 2014-07-25 | |
| Cognitive deficits | nervous | 19 % | 21595125 | 2014-07-25 | |
| Spasticity | nervous | 17 % | 24814845 | 2014-07-25 | |
| Babinski's sign | nervous | 17 % | 24814845 | 2014-07-25 | |
| Seizures | nervous | 11 % | 24814845 | 2014-07-25 | |
| Muscle atrophy | skeletal | 11 % | 24814845 | 2014-07-25 |
List of references:
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
Katrien Smets, Tine Deconinck, Jonathan Baets, Anne Sieben, Jean-Jacques Martin, Iris Smouts, Shuaiyu Wang, Franco Taroni, Daniela Di Bella, Wim Van Hecke, Paul M Parizel, Christina Jadoul, Robert De Potter, Francine Couvreur, Elena Rugarli, Peter De Jonghe,
Neurology - Jun 2014
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