| Individual ID |
00218374 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
00y03m? |
| Diagnosis/Initial |
- |
| Age/Examination |
37y (37 years) |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
36y |
| Phenotype/Onset |
Seizures (HP:0001250), "twisted" posture, spasticity (HP:0001257) |
| Phenotype details |
At birth: slow to breathe; Neonatal history: birth weight: 4.9kg; Disease course: At age 12m: hospitalization because of high fever (HP:0001945) with dystonia (HP:0001276); At age 06y: severe flexor spasticity of extremities (HP:0001257), choreoatheoid movements (HP:0001266), oral dyskinesia; At age 37y: Moderate retardation (HP:0002342) (responds to simple commands, uses Bliss board to communicate), severe spastic quadriplegia (HP:0002510), choreoathetosis (HP:0001266), dystonia (HP:0001276); Resided in nursing care facility for all his life and required many hospitalizations for aspiration pneumonia (HP:0011951); Death due to pseudomembranous colitis during hospital stay for aspiration pneumonia; Autopsy: frontal horns of lateral vernticles moderately enlarged;marked atrophy of caudate and putamen |
| Protein |
- |
| Biochem |
GA(urine):13µmol/mmol creatinine; 3-OH-GA(urine): trace |
| Enzyme/Activity |
Residual activity: 7% (lymphocytes) |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2019-01-24 12:00:22 +01:00 (CET) |
| Date last edited |
2019-02-13 14:52:11 +01:00 (CET) |
