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Prevalence (%) of clinical parameters based on data from 2 references describing 62 individuals
Cerebellar atrophy
Ataxia
Hypometric saccades
Dysarthria
Hyperactive reflexes
Ophthalmoplegia
Nystagmus
Ptosis
Pallesthesia
Babinski's sign
Extrapyramidal symptoms
Muscle weakness
Cognitive deficits
Spasticity
Muscle atrophy
Seizures
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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