[Ballerina steps, symptom disclosing hypertrophic Charcot-Marie disease with dominant transmission. Value of electrophysiological studies].
Three children referred for electromyographic investigations presented difficulty in standing upright and in walking. They walked on the points of the feet. The disorder had appeared several years after the development of normal walking. Electrophysiological tests demonstrated a severe peripheral neuropathy with slowing of motor conduction in all four limbs and severe disturbances of sensory conduction. The purely peripheral nature of the lesion was confirmed by studying cortical somatesthetic potentials. E.M.G. and stimulus-detection examinations in family ascendants free from any clinical disorders revealed a similar neuropathy. Biopsy confirmed the presence of a demyelinating neuropathy with schwannian hyperplasia in adult subjects. Biological tests showed anomalies of blood saturated/unsaturated fatty acid ratios. This represents therefore a rather unusual initial clinical presentation of a hypertrophic form of Charcot-Marie's disease with dominant transmission, or form I in Dyck's classification of sensory-motor hereditary neuropathies. Families of children presenting this type of clinical or electrical picture should undergo routine electrophysiological tests. In this way, a whole series of peripheral neuropathies previously considered as sporadic or transmitted in a recessive mode will be found to form part of the group of dominant forms.
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004594:Electrophysiology; D005260:Female; D005684:Gait; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000503:physiopathology*
La marche en ballerine, symptôme révélateur d'une maladie de Charcot-Marie à forme hypertrophique avec transmission dominante. Intérêt des explorations électrophysiologiques.