Phenotype #0000245282
| Individual ID |
00326819 |
| Associated disease |
? |
| Diagnosis/Initial |
ataxia, spasticity, demyelinating neuropathy |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., height 166 cm (50%), weight 74.3 kg (85%), OFC 51 cm (<3%); severe global developmental delay/intellectual disability, on formal testing verbal reasoning and adaptive skills <1% (ABAS-II, Leiter-R, PPVT-4); 3.5y-walk; 5y-first words, 7y-sentences, 16y-mainly uses single words and short phrases, dysarthria; ambulatory, spastic gait, ataxia, occasional dystonic posturing; needs assistance to feed, dress, bath, can print name; severe, progressive appendicular hypertonia/spasticity; deep tendon reflexes 4+ with sustained ankle clonus, +Hoffman sign; extensor plantar responses; muscle strength MRC grade 5/5 UEs, tibialis anterior and extensor hallucis longus 4/5; not able to cooperate with formal sensory exam; cerebellar testing mirror movements, intention tremor, mild dysmetria, gait ataxia, unable to perform tandem gait; no seizures; MRI brain mild cerebellar atrophy, non-specific T2 and FLAIR hyperintensities; 13y-EMG/NCS length-dependent primary axonal neuropathy with secondary demyelination, markedly decreased velocities in motor fibers of tibial and deep peroneal nerves |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
16y (16 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 |
|
