Phenotype #0000290792
| Individual ID |
00397665 |
| Associated disease |
CMT |
| Phenotype details |
see paper; unsteady gait (HP:0002317), tremor hands (HP:0002378), restless legs (HP:0012452), atrophy hands (HP:0008948), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to wrists/knees (HP:0007328), vibration sense reduced to elbows/costal margins (HP:0002495), normal position sense (-HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), pes cavus (HP:0001761); subclinical high frequency sensorineural hearing loss (HP:0000407), mild head tremor (HP:0002346), mild tremor upper limbs, mild broken-up smooth pursuits, periodic limb movements disorder; neuropathy with axonal and demyelinating features (HP:0009830); normal brainstem auditory evoked potentials; MRI brain normal; MRI spinal cord normal, loss of large myelinated fibres, irregularly shaped fibres, regeneration clusters, ... |
| Diagnosis/Initial |
Charcot-Marie-Tooth disease |
| Inheritance |
Unknown |
| Diagnosis/Definite |
- |
| Age/Examination |
53y (53 years) |
| Age/Diagnosis |
10y-20y |
| Age/Onset |
- |
| Phenotype/Onset |
unsteady gait (HP:0002317), tremor hands (HP:0002378), restless legs (HP:0012452) |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-12-27 19:45:23 +01:00 (CET) |
| Date last edited |
N/A |
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