Phenotype #0000245285
| Individual ID |
00326822 |
| Associated disease |
? |
| Diagnosis/Initial |
ataxia, spasticity, demyelinating neuropathy |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., height 165 cm (5%), weight 95.45 kg (95%), OFC 58 cm (~98%); 21y-moderate intelletual disability FSIQ 46; 18m-walk; 13m-first word, 2y6m-put 2 words together, dysarthria; ambulatory, ataxia, falls monthly, spasticity and increasing unsteadiness; can use utensils but prefers finger feeding, does not color within lines, needs assistance with most ADLs; severe, progressive, LEs≫UEs appendicular hypertonia/spasticity; deep tendon reflexes 3+ throughout, except 1+ at the ankles; extensor plantar responses; muscle strength not tested formally but grossly normal, no asymmetry; uncooperative for detailed sensory exam, hypersensitivity feet bilaterally; cerebellar testing slow finger to nose movements, clearly ataxic gait with bilateral circumduction, unable to perform tandem gait or stance; 6m-seizures, refractory generalized epilepsy, myoclonic, rarely atonic and absence; MRI brain non-specific white matter signal abnormalities, stable over time; 12y-EMG/NCS predominantly demyelinating sensory motor neuropathy, slow motor conduction velocities, markedly decreased amplitudes in tibial nerve, absent sural responses |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
22y (22 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-01-16 10:11:03 +01:00 (CET) |
| Date last edited |
N/A |
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