Phenotype #0000243111

Individual ID 00324602
Associated disease CMT
Phenotype details distal paresis, atrophy of lower legs, steppage gait, no sensory disturbances, nystagmus, reflexes arms normal to brisk, absent Achilles tendon jerks, brisk knee tendon reflex, originally diagnosed with multiple sclerosis; EMG documented as severe sensorimotor axonal polyneuropathy, no recordings available
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal dominant
Diagnosis/Definite CMT2N
Age/Examination 62y (62 years)
Age/Diagnosis -
Age/Onset 29y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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