Myotonic dystrophy in infancy

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An infant with early-onset myotonic dystrophy (MTD) born to the affected mother has been followed from the neonatal period through 19 months of life. The initial symptoms were cyanosis, difficulty in sucking and swallowing, generalized hypotonia and immobility which necessitated oxygen therapy and gevage feedings for seweral days after birth. Weakness of the facial muscle was noticed soon after birth. During the course of observation, movement of the extremities became active at 2 months. He sat at 6 months, stood with support at 11 months, but has not walked alone. Range of mobility of the hip and shoulder joints tended to increase, and the heal-to-ear sign has been constantly positive after 6 months. The muscle weakness is most prominent on the face and flexors of the anterior neck. Neither cataract, clinical and EMG myotonia of the extremities nor talipes has been detected. Though present, the patellar and Achilles tendon reflexes have been markedly depressed throughout the course. Mental development is considered as the range of debility. Biopsy of the muscle performed at 4 months showed uniformly small muscle fibers without degeneration. Few fibers showed internal nuclei.
一般社団法人日本小児神経学会の論文