The Clinical Research Of Hereditary Motor And Sensory Neuropathy

Objective:To look for clinical characteristics,females in a family with deep sensory disturbance as the prominent sign of hereditary motor and sensory neuropathy were analysed.The evidence of epidemiological investigation was provided.Materials and Methods:According to the patient who was diagnosed as hereditary motor and sensory neuropathy by The First Hospital of Jilin University,we found four generations of the family.The family map was drawn.All clinical data collections and routine blood tests were taken from all the family members.Electromyography and the PMP22 gene repeat mutation test with allele-specific PCR-restriction enzyme digestion method were carried out on the proband. The relationship between incidence and PMP22 gene was observed .A comprehensive analysis of the clinical characteristics and inheritance of the family were carried out.Results:Of 45 person of the same family,18 males all did not affected by the disease,of 27 females,12 having the disease(representing the total number of the family of 26.7%),female incidence rate was 44.4%.Age of onset was 13 years to 56 years,the average age of onset was (29.6±13.2)years,the duration was 3 years to 18 years and average course was (8.7±4.9)years.All the patients were characterized by progressive weakness of lower extremities,slow progression,no affect longevity ,but to varying degrees by the impact of daily life.Three patients found distal muscular atrophy after several years'muscle weakness.All the patients didn't appear subjective sensory disturbance during the course.The serious cases needed wheelchair,their duration were 18 years and 17 years respectively.The lightest cases only showed muscular fatigue after the walking,disease courses were nearly 5 years. All the patients showed reduced or lost tendon reflexes,normal superficial sensation,reduced or lost deep sensation.Three male family members who have no muscle weakness,no muscular atrophy or no subjuective sensory disturbance performed deep sensory disturbance.The result of proband`s electromyography was upper and lower limbs neurogenic changes.The result of PMP22 gene repeat mutation test was negative.One patient who was given neurotrophy durgs and wore orthopedic shoes felt the lower extremity fatigue symptoms improved.The rest members were not treated.Conclusion:All patients of the family had deep sensory disturbance as the prominent sign. All the patients were female.Three male family members who have no muscle weakness,no muscular atrophy or no subjuective sensory disturbance showed deep sensory disturbance,suggesting that deep sensory disturbance might represent abnormal gene carrier.The mode of inheritance might be sex-influenced autosomal dominance and there might be the phenomenon of genetic imprinting.Age at onset of each generation was earlier than the previous generation,there was the phenomenon of genetic anticipation. PMP22 gene repeat mutation associated with CMT1A was excluded.This family may be the new subtype of hereditary motor and sensory neuropathy,neuromuscular biopsy and gene sequencing should be carried out.