Early observations on duchenne-meryon muscular dystrophy.

cles, loss of ambulation by adolescence, and early death. His harpoon muscle biopsies established the loss of muscle fi bre striation, hyperplasia of fi brous connective tissue with replacement by granular matter and fat vesicles, and fascicular atrophy of the muscles and destruction of the muscle as essential features. Duchenne wrote [4] : ‘This disease is mainly characterised: (1) By feebleness of movement, usually situated at fi rst in the muscles Duchenne muscular dystrophy is an X-linked recessive, progressive muscle-wasting disease affecting all world populations equally, with an incidence of about 1 in every 5,000 live male births. Duchenne made use of his invention, the ‘harpoon’ that he employed to perform percutaneous muscle biopsies; not surprisingly, this aroused hostile criticism of its ethical propriety, in the local press. The discovery of pseudohypertrophic paralysis, or myosclerotic paralysis in 1868 [1] , was however, a remarkable and important contribution [2] , dependent on and illustrated by pictures of histology obtained by harpoon biopsy. In 1858, he studied the case of a 9-year-old boy who could not walk because of muscle wasting. He had suspected the existence of this disease from the concurrence of the characteristic symptoms, and in the second edition of De l’Electrisation localisée [3] he published his fi rst description, and proposed the name ‘hypertrophic paraplegia of infancy’. His fi rst case crystallised the essential features: ‘Paralysie pseudo-hypertrophique; début dans la première enfance, par la faiblesse des membres inférieurs; grossissement considérable, à l’âge de 7 ans, des muscles moteurs des membres inférieurs et des extenseurs de la colonne vertébro-lombaire; généralisation progressive de la paralysie et abolition complète de tous les mouvements, à 13 ans et demi; intelligence obtuse; mort phthisique, à 15 ans’. He described the male predominance, progressive course, waddling gait, pseudo-hypertrophy of calf musReceived: April 18, 2005 Accepted: April 18, 2005 Published online: August 10, 2005