| Objective: In order to research the relationship betweenCharcot-Marie-Tooth disease and PMP22gene for some family,this essay focuses researches on Charcot-Marie-Tooth diseasewhich characterized by tremors and sensory disorder related toprominent signs of autosomal dominant inheritance, and do someresearch on its clinical manifestation andsnelectrophysiological feature.Materials and Methods: All the clinical data and routineblood tests for the proband and some family members, wasacquired from the patient who was diagnosed as hereditary motorand sensory neuropathy by The First Hospital of JilinUniversity. The analysis was finished by the PMP22gene repeatmutation test with PCR-restriction enzyme digestion method forall of them and electromyography examine for the proband andpart of the family members.Results: Any one person in this family whether male or femalehas an equal opportunity on being attacked by this disease evenincluding every generation, which accord with autosomaldominant inheritance. Four generations family has39members and11have the obvious symptoms of this disease. Among themthere are18male with4patients and21female with7patients.Age of onset from5to50years, the duration from1to49years,and at the same time every patient has a different state andappear slow development even the slight one has noself-conscious symptom, and they just have light sensorydisturbance. Compared with them, the serious one havephenomenon such as foot drop, walking difficulties and even inbed. There is out of proportion between the severity of disease,age and course of disease. Most patients showed muscle atrophy,deep sensation reduced or lost, tendon reflexes diminished, andtremor and sensory disturbance as the prominent sign of it, evenincluding pes cavus and mallet toes, a few patients showedmuscle weakness in early. Part of the family members can’t bediagnosed because they had no clinical symptoms and that theyshow the distal limbs tuning fork vibration sense was slightlyreduced, lacking electrophysiological examinations and otherauxiliary examination only. The pathogeny of this CMT familywith tremor and sensory disorder was not PMP22duplicationmutation by the PCR-restriction enzyme digestion method.Conclusion: This family suffered the autosomal dominantCharcot-Marie-Tooth disease which characterized by tremors and sensory disturbance. PMP22gene duplication mutationassociated with CMT was excluded through the PCR-double enzymemethod, it possibly emerge because of some new subtype ofCharcot-Marie-Tooth disease which need further experiments onsome other genes to confirm the predicted results. |
