Phenotype #0000000575
| Individual ID |
00001143 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
00y09m |
| Diagnosis/Initial |
Athetoid cerebral palsy |
| Age/Examination |
06y05m (6 years, 5 months) |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Phenotype/Onset |
Hypotonia, delayed motor development, fine motor development normal, Bailey Scale Mental Development Index: 107, (in contrary to other family memebers: pigment absent from hair, blue irides) |
| Phenotype details |
Disease course: At age 03y06m: hypotonia, ataxia, ambulatory with guarded and limited balance (ataxic and wide-based gait, often falls), intention tremor, small choreiform movements of distal extremities, hyperextended knees; At age 06y05m: recent recovery from varicella without complications, dysarthric speech (drools when tired), many brief twitching involuntary movements, larger choreiform movements, dystonia, muscle tone decreased, reflexes normal; At age 09y: visits fourth grade, placement in program for gifted children (superior intelligence), falling less often but still athetoid and impressively dystonic, prominent hand tremor; MRI(age 07y): normal |
| Protein |
- |
| Biochem |
3-OH-GA (urine): 106 mmol/mol creatinine (c: 0-6); GA (urine): 27 mmol/mol creatinine (c: 0-5); carnitine (blood): 11.7 µmol/l (c: 21-53); carnitine (urine): 0.5 mmol/mol creatinine (c: 0-15) |
| Enzyme/Activity |
- |
| Owner name |
Katrin Hinderhofer |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2013-04-17 17:21:21 +02:00 (CEST) |
| Date last edited |
2019-04-08 10:28:55 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
