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SPECIAL FEATURE

SPECIAL FEATURE Abstract This 10-year-old boy was brought to medical attention by his mother with complaints of significant incoordination throughout childhood and notable weakness in the last 2 years. In particular, the mother noted that he had difficulty climbing stairs and needed to use the railing. He had been receiving individual attention from his physical education teacher at school for 2 years because of slow and uncoordinated running. Academically, he was doing very well, with good handwriting and drawing skills. The child was the product of a full-term pregnancy and spontaneous natural delivery. He weighed 3864 g at birth. He rolled over at age 4 months, sat without support at age 6 to 7 months, and walked at age 14 months. His first word phrases were at age 15 months, and his first sentences, at age 2½ years. The mother thought he was less active prenatally than his older brother. Family history was References 1. Kugelberg E, Welander L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy . Arch Neurol Psychol . 1956;75:500-509.Crossref 2. Byers RK, Banker BQ. Infantile muscular atrophy . Arch Neurol . 1961; 5:140-164.Crossref 3. Dubowitz V. Infantile muscular atrophy: a prospective study with particular reference to a slowly progressive variety . Brain . 1964;87:707-718.Crossref 4. Brooke MH. A Clinician's View of Neuromuscular Disease . 2nd ed. Baltimore, Md: Williams & Wilkins; 1986. 5. Bouwsma G, Leschot NJ. Unusual pedigree patterns in seven families with spinal muscular atrophy: further evidence for the allelic model hypothesis . Clin Genet . 1986;30:145-149.Crossref 6. Zerres K, Stephan M, Kehren U, Grimm T. Becker's allelic model to explain unusual pedigrees in spinal muscular atrophy . Clin Genet . 1987;31: 276-277.Crossref 7. Pearn JH, Bundey S, Carter CO, Wilson J, Gardner-Medwin D, Walton JN. A genetic study of subacute and chronic spinal muscular atrophy in childhood . J Neurol Sci . 1978;37:227-248.Crossref 8. Emery AEH, Davie AM, Holloway S, Skinner R. International collaborative study of the spinal muscular atrophies, part 2: analysis of genetic data . J Neurol Sci . 1976;30:375-384.Crossref 9. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 . Nature . 1990;344:540-541.Crossref 10. Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q . Nature . 1990;344:767-768.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1993 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1993.02160310095028
Publisher site
See Article on Publisher Site

Abstract

Abstract This 10-year-old boy was brought to medical attention by his mother with complaints of significant incoordination throughout childhood and notable weakness in the last 2 years. In particular, the mother noted that he had difficulty climbing stairs and needed to use the railing. He had been receiving individual attention from his physical education teacher at school for 2 years because of slow and uncoordinated running. Academically, he was doing very well, with good handwriting and drawing skills. The child was the product of a full-term pregnancy and spontaneous natural delivery. He weighed 3864 g at birth. He rolled over at age 4 months, sat without support at age 6 to 7 months, and walked at age 14 months. His first word phrases were at age 15 months, and his first sentences, at age 2½ years. The mother thought he was less active prenatally than his older brother. Family history was References 1. Kugelberg E, Welander L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy . Arch Neurol Psychol . 1956;75:500-509.Crossref 2. Byers RK, Banker BQ. Infantile muscular atrophy . Arch Neurol . 1961; 5:140-164.Crossref 3. Dubowitz V. Infantile muscular atrophy: a prospective study with particular reference to a slowly progressive variety . Brain . 1964;87:707-718.Crossref 4. Brooke MH. A Clinician's View of Neuromuscular Disease . 2nd ed. Baltimore, Md: Williams & Wilkins; 1986. 5. Bouwsma G, Leschot NJ. Unusual pedigree patterns in seven families with spinal muscular atrophy: further evidence for the allelic model hypothesis . Clin Genet . 1986;30:145-149.Crossref 6. Zerres K, Stephan M, Kehren U, Grimm T. Becker's allelic model to explain unusual pedigrees in spinal muscular atrophy . Clin Genet . 1987;31: 276-277.Crossref 7. Pearn JH, Bundey S, Carter CO, Wilson J, Gardner-Medwin D, Walton JN. A genetic study of subacute and chronic spinal muscular atrophy in childhood . J Neurol Sci . 1978;37:227-248.Crossref 8. Emery AEH, Davie AM, Holloway S, Skinner R. International collaborative study of the spinal muscular atrophies, part 2: analysis of genetic data . J Neurol Sci . 1976;30:375-384.Crossref 9. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 . Nature . 1990;344:540-541.Crossref 10. Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q . Nature . 1990;344:767-768.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jul 1, 1993

References