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Prevalence (%) of clinical parameters based on data from 2 references describing 56 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 |
| Spasticity | nervous | 100 % | 20886637 | 2018-03-04 | |
| Leukodystrophy | nervous | 100 % | 20886637 | 2018-03-04 | |
| Decreased motor nerve conduction velocity | nervous | 86 % | 20886637 | 2018-03-04 | |
| Hypotonia | nervous | 77 % | 20886637 | 2018-03-04 | |
| Myoclonus | nervous | 62 % | 21070211 | 2018-03-04 | |
| Optic atrophy | nervous | 42 % | 21070211 | 2018-03-04 | |
| Seizures | nervous | 42 % | 21070211 | 2018-03-04 | |
| Psychomotor regression | nervous | 40 % | 20886637 | 2018-03-04 | |
| Basal ganglia calcifications | nervous | 38 % | 20886637 | 2018-03-04 | |
| Hypomyelination | nervous | 23 % | 20886637 | 2018-03-04 | |
| Irritability | nervous | 20 % | 20886637 | 2018-03-04 | |
| Startling | nervous | 15 % | 21070211 | 2018-03-04 | |
| Gait disturbances | nervous | 13 % | 20886637 | 2018-03-04 | |
| Nystagmus | nervous | 10 % | 20886637 | 2018-03-04 | |
| Seizures | nervous | 7 % | 20886637 | 2018-03-04 | |
| Ataxia | nervous | 7 % | 20886637 | 2018-03-04 | |
| Failure to thrive | multi | 3 % | 20886637 | 2018-03-04 |
List of references:
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, David N Cooper, Mirella Filocamo,
Human mutation - Dec 2010
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
A Fiumara, R Barone, A Arena, M Filocamo, W Lissens, L Pavone, G Sorge,
Clinical genetics - Nov 2011