Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in the lower extremities.
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.
Murakami
Tatsufumi
T
Division of Neurology, Department of Internal Medicine, Kawasaki Medical School, Kurashiki, Japan. tatsum@kawasaki-m.ac.jp
Fukai
Yuta
Y
Rikimaru
Mitsue
M
Henmi
Shoji
S
Ohsawa
Yutaka
Y
Sunada
Yoshihide
Y
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
D003402:Creatine Kinase