Phenotype #0000290293
| Individual ID |
00397139 |
| Associated disease |
CMT |
| Phenotype details |
see paper; motor delay (HP:0001270), finger contractures (HP:0012785), distal upper limb muscle atrophy (HP:0007149), 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 mid-forearms/above knees (HP:0007328), vibration sense reduced to left shoulder/costal margins (HP:0002495), position sense reduced to the ankles, marked UL/LL limb ataxia worse with eyes closed (HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), ataxic gait (HP:0002066), pes cavus (HP:0001761); 5y-sensorineural hearing loss (HP:0000407), hearing aids; dysarthria (HP:0001260), mild head tremor (HP:0002346), broken-up smooth pursuits (HP:0007772), tongue hemiatrophy (HP:0100556), mild scoliosis (HP:0002650), scapular winging (HP:0003691); demyelinating neuropathy; absent brainstem auditory evoked potentials; MRI brain mild cerebellar and medullary volume loss; MRI spinal cord mild cervical cord volume loss, ... |
| Diagnosis/Initial |
Charcot-Marie-Tooth disease |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
- |
| Age/Examination |
40y (40 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<01y |
| Phenotype/Onset |
delayed motor milestones, finger contractures |
| Protein |
- |
| Owner name |
Farina Kemper |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Farina Kemper |
| Date created |
2021-12-19 21:10:48 +01:00 (CET) |
| Date last edited |
2021-12-27 17:28:19 +01:00 (CET) |
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