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Early Onset of Myotonic Dystrophy in Infants

Early Onset of Myotonic Dystrophy in Infants Abstract Three cases with early-onset myotonic dystrophy (MyD) belonging to different families are presented. This condition makes its appearance in the newborn period with symptoms such as difficulty in sucking and swallowing, facial diplegia, generalized muscular hypotonia, talipes equinovarus, and later a delay of psychomotor and language development. Sucking and swallowing difficulties may subside after some weeks; the muscular hypotonia may persist for a long time. Tendon reflexes are active or brisk, even in cases with most pronounced hypotonia. Signs of classical MyD may not develop until later childhood; muscle histology and electromyogram results are usually normal in the beginning but show typical changes later on. Early-onset MyD has so far been observed exclusively in offspring of mothers who themselves carry the mutant gene. References 1. Tangheroni W: Le Miopatie di Origine Genetica . Pisa, Italy, Mariotti, 1969. 2. Caughey JE, Myrianthopoulos NC: Dystrophia Myotonica and Related Disorders . Springfield, Ill, Charles C Thomas Publishers, 1963. 3. Kuhn E: Progressive Muskeldystrophie, Myotonie, Myasthenie . Berlin, Springer, 1966. 4. Vanier TM: Dystrophia myotonica in childhood . Br Med J 2:1284-1288, 1960.Crossref 5. Parker N: Dystrophia myotonica presenting as congenital facial diplegia . Med J Aust 2:939-944, 1963. 6. Dodge PR, et al: Myotonic dystrophy in infancy and childhood . Pediatrics 35:3-19, 1965. 7. Zellweger H: Congenital myopathies and their differential diagnosis . Pädiat Fortbildg 18:105-138, 1966. 8. Pruzanski W: Variants of myotonic dystrophy in pre-adolescent life: The syndrome of myotonic dysembryoplasia . Brain 89:563-568, 1966.Crossref 9. Watters GV, Williams TW: Early onset myotonic dystrophy . Arch Neurol 17:137-152, 1967.Crossref 10. Harper PS, Dyken PR: Early-onset dystrophia myotonica . Lancet 2:53-55, 1972.Crossref 11. Bell DB, Smith DW: Myotonic dystrophy in the neonate . J Pediatr 81:83-86, 1972.Crossref 12. Pruzanski W: Myotonic dystrophy: A multisystem disease . Psychiatr Neurol (Basel) 149:302-322, 1965.Crossref 13. Becker PE: Humangenetik 3:411-550, 1964. 14. Zellweger H, Schneider HJ: Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome . Am J Dis Child 115:588-598, 1968. 15. Schochet SS, et al: Centronuclear myopathy . J Neurol Sci 16:215-228, 1972.Crossref 16. Sheets RF, Larson SE: Clinical pathological conference 485: Amyotonia, failure to thrive, cardiomegaly . J Iowa Med Soc 57:1020-1035, 1967. 17. Walton JN: Amyotonia congenita . Lancet 1:1023-1028, 1956.Crossref 18. Carter CO, Bundey S: Early-onset dystrophia myotonica . Lancet 2:336, 1972.Crossref 19. Bundey S, Carter CO: Genetic heterogeneity for dystrophia myotonica . J Med Genet 9:311-315, 1972.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Early Onset of Myotonic Dystrophy in Infants

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Publisher
American Medical Association
Copyright
Copyright © 1973 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1973.04160040097021
Publisher site
See Article on Publisher Site

Abstract

Abstract Three cases with early-onset myotonic dystrophy (MyD) belonging to different families are presented. This condition makes its appearance in the newborn period with symptoms such as difficulty in sucking and swallowing, facial diplegia, generalized muscular hypotonia, talipes equinovarus, and later a delay of psychomotor and language development. Sucking and swallowing difficulties may subside after some weeks; the muscular hypotonia may persist for a long time. Tendon reflexes are active or brisk, even in cases with most pronounced hypotonia. Signs of classical MyD may not develop until later childhood; muscle histology and electromyogram results are usually normal in the beginning but show typical changes later on. Early-onset MyD has so far been observed exclusively in offspring of mothers who themselves carry the mutant gene. References 1. Tangheroni W: Le Miopatie di Origine Genetica . Pisa, Italy, Mariotti, 1969. 2. Caughey JE, Myrianthopoulos NC: Dystrophia Myotonica and Related Disorders . Springfield, Ill, Charles C Thomas Publishers, 1963. 3. Kuhn E: Progressive Muskeldystrophie, Myotonie, Myasthenie . Berlin, Springer, 1966. 4. Vanier TM: Dystrophia myotonica in childhood . Br Med J 2:1284-1288, 1960.Crossref 5. Parker N: Dystrophia myotonica presenting as congenital facial diplegia . Med J Aust 2:939-944, 1963. 6. Dodge PR, et al: Myotonic dystrophy in infancy and childhood . Pediatrics 35:3-19, 1965. 7. Zellweger H: Congenital myopathies and their differential diagnosis . Pädiat Fortbildg 18:105-138, 1966. 8. Pruzanski W: Variants of myotonic dystrophy in pre-adolescent life: The syndrome of myotonic dysembryoplasia . Brain 89:563-568, 1966.Crossref 9. Watters GV, Williams TW: Early onset myotonic dystrophy . Arch Neurol 17:137-152, 1967.Crossref 10. Harper PS, Dyken PR: Early-onset dystrophia myotonica . Lancet 2:53-55, 1972.Crossref 11. Bell DB, Smith DW: Myotonic dystrophy in the neonate . J Pediatr 81:83-86, 1972.Crossref 12. Pruzanski W: Myotonic dystrophy: A multisystem disease . Psychiatr Neurol (Basel) 149:302-322, 1965.Crossref 13. Becker PE: Humangenetik 3:411-550, 1964. 14. Zellweger H, Schneider HJ: Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome . Am J Dis Child 115:588-598, 1968. 15. Schochet SS, et al: Centronuclear myopathy . J Neurol Sci 16:215-228, 1972.Crossref 16. Sheets RF, Larson SE: Clinical pathological conference 485: Amyotonia, failure to thrive, cardiomegaly . J Iowa Med Soc 57:1020-1035, 1967. 17. Walton JN: Amyotonia congenita . Lancet 1:1023-1028, 1956.Crossref 18. Carter CO, Bundey S: Early-onset dystrophia myotonica . Lancet 2:336, 1972.Crossref 19. Bundey S, Carter CO: Genetic heterogeneity for dystrophia myotonica . J Med Genet 9:311-315, 1972.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Apr 1, 1973

References