title: [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].
abstract: Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN.
authors: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences; Neurology, Kagoshima University Medical and Dental Hospital.
authors: Hiroshi
authors: H
authors: Takashima
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005820:Genetic Testing / Q000379:methods; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D057089:Pathology, Molecular; D017422:Sequence Analysis, DNA / Q000379:methods