title: Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in the lower extremities.
abstract: We describe three patients from the same family with hereditary sensory ataxic neuropathy followed by proximal muscle weakness in the lower extremities. Sensory ataxic gait began as an initial symptom when patients were in their 50s. Mild proximal weakness in the lower extremities appeared several years later. Serum creatine kinase was mildly elevated. Nerve conduction studies revealed sensory dominant axonal neuropathy, and short sensory evoked potentials showed involvement of the sensory nerve axon, dorsal root ganglia and posterior funiculus of the spinal cord. Needle electromyography showed fibrillation, positive sharp waves, and multiple giant motor unit potentials, suggesting the involvement of anterior horn motor neurons or the anterior root. Autosomal recessive inheritance was considered, because of consanguinity. The disorder described here may be a new clinical entity with unique clinical manifestations.
authors.affiliation: Division of Neurology, Department of Internal Medicine, Kawasaki Medical School, Kurashiki, Japan. tatsum@kawasaki-m.ac.jp
authors.forename: Tatsufumi
authors.initials: T
authors.lastname: Murakami
authors.forename: Yuta
authors.initials: Y
authors.lastname: Fukai
authors.forename: Mitsue
authors.initials: M
authors.lastname: Rikimaru
authors.forename: Shoji
authors.initials: S
authors.lastname: Henmi
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Ohsawa
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Sunada
mesh_terms: D017668:Age of Onset; D001259:Ataxia / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005073:Evoked Potentials, Somatosensory; D005190:Family; D005260:Female; D006801:Humans; D007866:Leg / Q000503:physiopathology; D008875:Middle Aged; D018908:Muscle Weakness / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D009431:Neural Conduction; D010375:Pedigree; D013116:Spinal Cord / Q000503:physiopathology; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology
chemical_list: D003402:Creatine Kinase