Phenotype #0000243108
| Individual ID |
00324599 |
| Associated disease |
CMT |
| Phenotype details |
atrophy and weakness distal legs (MRC 4), pes cavus, hammer toes and contractures Achilles tendons, decreased vibration sense hallux, absent Achilles tendon jerks, extensor plantar response on the right; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 39 m/s; left ulnar motor nerve conduction velocity (abductor digiti quinti muscle) forearm 46 m/s. Very low to non-recordable compound muscle action potentials peroneal (extensor digitorum brevis muscle) both sides, left tibial (abductor hallucis brevis muscle) nerve. Very low to non-recordable sensory nerve action potentials of right median (2nd finger), left ulnar (5th finger) and right sural nerve (lateral malleolus). Signs of denervation and reinnervation in predominantly distal leg and arm muscles; conclusion severe sensorimotor axonal polyneuropathy. |
| Diagnosis/Initial |
Charcot-Marie-Tooth disease |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
CMT2N |
| Age/Examination |
38y (38 years) |
| Age/Diagnosis |
- |
| Age/Onset |
35y |
| 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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