Clinical Features Retrospectively Analysis Of 24 Cases Children Charcot-Marie-Tooth Disease

Objective To study the features of clinical manifestations, electrophysiological examination of Charcot-Marie-Tooth disease(CMT), to discuss the diagnosis and the differential diagnosis of CMT.Methods The clinical manifestations, electromyography, nerve conduction velocity examination and so on of 24 CMT patients who were from October 1989 to October 2015 in Chongqing medical university affiliated children,s hospital were analyzed retrospectively.Results The male to female ratio was 1:1 in 24 cases. The onset age was in 0~12 years old, and the mean age of onset was 3.6 years old. The course of CMT disease in 24 cases was 0~12 years old, and the mean course of disease was 2.6 years old. Nine cases had family history. There was a history of interbreeding in 3 cases of children’s family. The onset of this group was hidden and the progress was slow. The clinical manifestation of 24 cases were limb muscle weakness. There was obvious cross-domain gait in 10 cases(42%), muscle atrophy of lower limb in 17 cases(71%), crane legs sample or an inverted champagne bottle sample change in 5 cases(21%), paresthesia in lower limb in 6 cases(25%).15 cases(63%) had foot deformity and 2 cases(8%)had scoliosis deformity. The electromyography examination showed neurogenic damages in 8 cases(33%). 24 cases of tibiofibular nerve conduction velocity in children: CMAP amplitude decreased in 9 patients, CMAP amplitude missing in 12 cases, MCV slowed or abnormal in 11 cases.13 cases of children with upper extremity nerve conductin velocity: CMAP amplitude decreased in 3 patients, CMAP amplitude missing in 3 cases, MCV slowed or abnormal in 4 cases, 6 cases were normal. The electrophysiological examination showed nerve conduction velocity decreased and amplitude decreased in all the cases. There were 5 cases checked for the related gene and all of these 5 cases showed CMT related gene mutation. 4 cases of 24 cases had the neuromuscular biopsy, and 2 cases showed neurogenic amyotrophy, another 2 cases showed onion-like changes.Conclusions The onset age of this group of patients is less than the average age of CMT. The incidence of men and women is no difference. The main clinical manifestations of 24 cases were chronic propressive of lower limbs distal muscle weakness and muscle atrophy. Electromyography and peripheral nerve conduction velocity are reliable methods in diagnosis of CMT. Muscle biopsy and genetic screening are the diagnosis method. But muscle biopsy is invasive and genetic screening is expensive, so the two method are limitated. CMT is often identified with spinal muscular atrophy and CIPD.