Phenotype #0000243113
| Individual ID |
00324604 |
| Associated disease |
CMT |
| Phenotype details |
no paresis (MRC5), no sensory disturbances, complaints of pain in legs and cramps in feet, reflexes normal, right ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 58 m/s, very low compound muscle action potential amplitudes right peroneal nerve (extensor digitorum brevis muscle) and low compound muscle action potential amplitudes left tibial nerve (abductor hallucis brevis muscle) with reduced motor nerve conduction velocity; EMG non-recordable sensory nerve action potential sural nerve (lateral malleolus) both sides and reduced sensory nerve action potential amplitude right radial nerve (thumb). No signs of denervation or reinnervation in distal leg and arm muscles; conclusion sensorimotor axonal polyneuropathy |
| Diagnosis/Initial |
Charcot-Marie-Tooth disease |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
CMT2N |
| Age/Examination |
50y (50 years) |
| Age/Diagnosis |
- |
| Age/Onset |
30y-40y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-12-20 14:20:17 +01:00 (CET) |
| Date last edited |
N/A |
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