| Individual ID |
00397578 |
| Associated disease |
AOA |
| Diagnosis/Initial |
Ataxia |
| Diagnosis/Definite |
Ataxia with ocular motor apraxia type 1 |
| Phenotype details |
Developmental history:
The patient is a product of normal pregnancy and delivery (dizygotic twin but the other is twin is completely normal).
Normal developmental milestones
Family history:
History of consanguineous marriage (cousins)
The patient has one brother with similar illness started at the age of 8. His brother developed incoordination during walking and frequent fall on the ground. He had nystagmus (end-gaze).
History of present illness:
The patient developed an insidious illness in the form of progressive incoordination. He dysarthria (staccato speech), nystagmus and change in the foot shape in the form of flat foot. No history suggestive of peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration. No cranial nerve involvement. Normal power.
Neurological examination:
Limb girdle ataxia
Nystagmus
Staccato speech
Normal sensation
Flat foot
Wide base staggering gaze
Normal planter response |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
17y (17 years) |
| Age/Diagnosis |
24y |
| Age/Onset |
08y |
| Phenotype/Onset |
Ataxia |
| Protein |
- |
| Owner name |
Sherifa Ahmed Hamed |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Sherifa Ahmed Hamed |
| Date created |
2021-12-24 18:15:42 +01:00 (CET) |
| Date last edited |
2022-02-23 11:49:40 +01:00 (CET) |
