Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.
Charcot-Marie-Tooth Disease ; classification ; diagnosis ; genetics ; Humans

Charcot-Marie-Tooth X type 1 (CMTX1) is caused by mutations in the connexin 32 gene (Cx32) on the X chromosome. Electrophysiologically, CMTX1 is usually associated with intermediate slowing of conduction velocities and severe impairments in male patients. In addition, patients with CMTX1 rarely present conduction block and temporal dispersion, which are characteristic findings in acquired demyelinating neuropathy. We report herein, for the first time in Korea, two patients with Cx32 mutations who exhibited unusual electrophysiological findings.
Charcot-Marie-Tooth Disease* ; Humans ; Korea ; Male ; X Chromosome

Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.
Charcot-Marie-Tooth Disease ; Humans ; Parents ; Phenotype ; Siblings

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.
Charcot-Marie-Tooth Disease ; Gene Dosage ; Humans ; Paralysis ; Phenotype

Charcot-Marie-Tooth Disease ; Child, Preschool ; Humans ; Male

No abstract available.
Amyotrophic Lateral Sclerosis* ; Charcot-Marie-Tooth Disease* ; China* ; Pedigree*

Humans ; Charcot-Marie-Tooth Disease/complications* ; Hoarseness/etiology*

We report data on 2 members of a family affected by a dominantly inherited disorder closely resembling Roussy-Levy syndrome(RLS) Electrophysiological findings showed a marked decrease of motor and sensory conduction velocities and mild neurogenic damage. Light and electron microscopy of sural nerve biopsy showed a hypertrophic neuropathy with diffuse onion-bulb formations and marked decrease of large size fibers. Teased fiber preparations revealed reduced internodal lengths and segmental demyelination. The hypothesis that RLS is not a disease entity but a hypertrophic-type of Charcot-Marie Tooth disease with essential tremor(HMSN type 1) is strongly supported.
Biopsy ; Charcot-Marie-Tooth Disease* ; Demyelinating Diseases ; Humans ; Microscopy, Electron ; Sural Nerve ; Tooth Diseases

Charcot-Marie-Tooth disease (CMT) with hearing impairment is a clinically distinct rare entity described in a few families, usually with a demyelinating neuropathy. The molecular basis for this disease has not been established with certainty. Audiological evaluation has revealed auditory neuropathy in the affected individual. We report a CMT1A family with sensorineural hearing loss and a novel frame shift mutation Ala106fs (318delT) in the PMP22 gene.
Charcot-Marie-Tooth Disease ; Deafness ; Frameshift Mutation* ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans

OBJECTIVE: To investigate the characteristics of foot deformities in patients with Charcot-Marie-Tooth (CMT) disease compared with normal persons according to severity of disease. METHOD: Sixty-two patients with CMT disease were recruited for this study. The normal control group was composed of 28 healthy people without any foot deformity. Patients were classified into a mild group and a moderate group according to the CMT neuropathy score. Ten typical radiological angles representing foot deformities such as pes equinus and pes varus were measured. The CMT group angles were compared with those of the normal control group, and those of the mild group were also compared with those of the moderate group. RESULTS: The lateral (Lat.) talo-first metatarsal angle, anteroposterior talo-first metatarsal angle, Lat. calcaneal-first metatarsal angle, Lat. naviocuboid overlap, Lat. calcaneal pitch, Lat. tibiocalcaneal angle, and Lat. talocalcaneal angle in the CMT group showed a significant difference compared to the normal control group (p<0.05). These findings revealed CMT patients have pes cavus, forefoot adduction, midfoot supination and pes varus deformity. Compared to the mild group, the moderate group significantly showed an increased Lat. calcaneal pitch and decreased Lat. calcaneal-first metatarsal angle, Lat. tibiocalcaneal angle, Lat. talocalcaneal angle, and Lat. talo-first metatarsal angle (p<0.05). These findings revealed that the pes cavus deformity of CMT patients tend to be worse with disease severity. CONCLUSION: The characteristic equinovarus foot deformity patterns in CMT patients were revealed and these deformities tended to be worse with disease severity. Radiographic measures may be useful for the investigation of foot deformities in CMT patients.
Charcot-Marie-Tooth Disease ; Clubfoot ; Congenital Abnormalities ; Foot ; Foot Deformities ; Humans ; Metatarsal Bones ; Supination