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Quantitative EMG analysis and longitudinal nerve conduction studies in a Refsum's disease patient
Author(s) -
Kuntzer Thierry,
Ochsner François,
Schmid Florence,
Regli Franco
Publication year - 1993
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880160809
Subject(s) - reinnervation , medicine , electromyography , weakness , nerve conduction velocity , ataxia , muscle weakness , motor nerve , cardiology , anesthesia , physical medicine and rehabilitation , anatomy , psychiatry
A patient with anosmia and night blindness had repeated clinical and electrophysiological examinations during a 21‐year period. Within the first 11 years, he experienced two subacute episodes of numbness with weakness and ataxia. Over the 10 ensuing years, no additional functional disability appeared. We looked retrospectively for a correlation between repeated manual muscle scoring and different nerve conduction parameters. Further studies were done in order to estimate reinnervation in proximal and distal muscles and to assess autonomic functions. A direct relationship was found between the magnitude of muscle weakness and the amplitude of compound muscle action potentials, whereas nerve conduction velocities were inhomogeneously reduced but almost unchanged over time. Parasympathetic tests were normal but sympathetic skin responses were absent. As estimated by macro‐EMG and turns‐amplitude analysis the compensatory reinnervation was very high. We conclude that, in Refsum's disease, recurrent segmental demyelination of a significant portion of the motor units can occur in parallel with exacerbations of weakness, and that a considerable degree of progressive motor and sudoromotor axonal loss can be found although there is an apparent long‐term clinical stabilization of the neuropathy. © 1993 John Wiley & Sons, Inc.