Phenotype #0000243103
| Individual ID |
00324594 |
| Associated disease |
CMT |
| Phenotype details |
atrophy lower legs, paralysis anterior tibialis muscles and toe extensors, paresis MRC 4 calf muscles, flat feet, distal sensory disturbances of the legs, decreased vibration sense of the feet, impaired joint position hallux, absent Achilles tendon jerks; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 34 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 40 m/s. No recordable compound muscle action potentials peroneal both sides, extensor digitorum brevis muscle) and tibial (abductor hallucis brevis muscle) nerves. No recordable sensory nerve action potentials right median (2nd finger), left ulnar (5th finger) and right sural nerve (lateral malleolus). Signs of reinnervation in the predominantly distal leg and arm muscles; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features. |
| Diagnosis/Initial |
Charcot-Marie-Tooth disease |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
CMT2N |
| Age/Examination |
62y (62 years) |
| Age/Diagnosis |
- |
| Age/Onset |
7y |
| 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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