Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy : A clinical and electrophysiological study

• Published in: Brain (London, England : 1878) Vol. 120; no. 6; pp. 955 - 962
• Main Authors: TEUNISSEN, L. L, NOTERMANS, N. C, WOKKE, J. H. J, FRANSSEN, H, VAN DER GRAAF, Y, OEY, P. L, LINSSEN, W. H. J. P, VAN ENGELEN, B. G. M, IPPEL, P. F, VAN DIJK, G. W, GABREELS-FESTEN, A. A. W. M
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01-06-1997; Oxford Publishing Limited (England)
• Subjects: Adult; Age of Onset; Aged; Atrophy; Axons - physiology; Biological and medical sciences; Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction; Creatine Kinase - blood; Disability Evaluation; Electrophysiology; Female; Hereditary Sensory and Motor Neuropathy - classification; Hereditary Sensory and Motor Neuropathy - diagnosis; Hereditary Sensory and Motor Neuropathy - physiopathology; Humans; Male; Medical sciences; Middle Aged; Motor Neurons - physiology; Motor Neurons - ultrastructure; Muscle, Skeletal - pathology; Nervous system (semeiology, syndromes); Neural Conduction; Neurology; Neurons, Afferent - physiology; Neurons, Afferent - ultrastructure; Prognosis; Sex Factors; Human; Electrodiagnosis; Nervous system diseases; Chronic; Idiopathic; Axon; Exploration; Clinical investigation; Peripheral nerve disease; Polyneuropathy; Comparative study; Genetic disease
• ISSN: 0006-8950; 1460-2156; 1460-2156
• DOI: 10.1093/brain/120.6.955

To evaluate whether chronic idiopathic axonal polyneuropathy (CIAP) should be considered as hereditary motor and sensory neuropathy type 2 (HMSN type 2), we compared the clinical features of 48 patients with CIAP with those of 47 patients with HMSN type 2. In addition, we studied electrophysiological data in 20 patients with CIAP and in 20 patients with HMSN type 2. We found, in patients with HMSN type 2, that the initial symptoms were predominantly motor and that weakness and handicap were more severe and skeletal deformities more frequent, compared with those of CIAP patients. Electrophysiologically, the tibialis anterior muscle showed more denervation in patients with HMSN type 2, consistent with the predominance of motor symptoms. There was no important effect of age of onset on clinical features in HMSN type 2 patients. We conclude that in an individual patient with a sensory or sensorimotor idiopathic axonal polyneuropathy and no family history of polyneuropathies, the diagnosis HMSN type 2 is unlikely. However, if motor symptoms predominate, the diagnosis of HMSN type 2 should be considered.