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

Abstract

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.

Distal symmetric polyneuropathy: A definition for clinical research

“…After comprehensive review of these articles, 12 articles attained a grade of class I, II, or III. [3][4][5][6][7][8][9][10][11][12][13][14] These articles serve as the major evidence basis for the case definition and are tabulated in table 3.…”

“…Two studies attained a grade of class I, 6,7 five attained a grade of class II, 3,8,9,11,13 and five attained a grade of class III. 4,5,10,12,14 Diagnostic accuracy. The diagnostic accuracy of the predictors was determined by calculating their sensitivities and specificities.…”

“…Symptoms may be primarily sensory, primarily motor, or both. [4][5][6][7][10][11][12] Symptoms begin distally in the feet. Sensory symptoms are either persistent or intermittent alterations of sensation initially involving the toes or feet.…”

“…A number of symptom questionnaires and methods for scoring symptoms have been described. [3][4][5][6][7][8][9][10][11][12][13][14] Signs. Signs of distal symmetric polyneuropathy evident upon clinical examination may include abnormalities of primary sensory modalities (pain, touch, hot, cold, vibration, and proprioception), motor system (weakness and atrophy), tendon reflexes (especially depressed or absent ankle jerks), or autonomic system.…”

“…Electrodiagnostic findings should be included as part of the case definition since they provide a higher level of specificity for the diagnosis. 4,5,12,17 Electrodiagnostic studies are sensitive, specific, and validated measures of the presence of polyneuropathy. [3][4][5]8,12,16,17,20,21 Electrodiagnostic evaluations commonly include both nerve conduction studies (NCSs) and needle EMG.…”