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December 1967, Vol 114, No. 6 >
Article | December 1967

Severe Congenital Muscular Dystrophy FREE

H. Zellweger, MD; A. Afifi, MD; William F. McCormick, MD; W. Mergner, MD
[+] Author Affiliations

Received for publication April 7, 1967.

Reprint requests to University of Iowa School of Medicine, Iowa City, Iowa 52240 (Dr. Zellweger).


Am J Dis Child. 1967;114(6):591-602. doi:10.1001/archpedi.1967.02090270047003.
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References
Comments

THE history of amyotonia congenita exemplifies impressively how diagnostic inaccuracy hinders scientific progress. Lack of appropriate laboratory tests, clinical follow-ups, and pathological documentation confused the semantics of neonatal and infantile hypotonia for decades. Although postmortem examinations showed that congenital hypotonia was due to degeneration of anterior horn cells in some cases and to primary disease of the muscle fiber in others, proper diagnosis became possible only after biochemical tests, electromyography, and muscle biopsy were utilized. Using these diagnostic tools, it became apparent that amyotonia congenita is a syndrome produced by a host of pathological conditions, some of which are primary muscle diseases.

Batten,1 as long ago as 1903, suspected on purely clinical grounds that a congenital primary muscular condition was responsible for amyotonia congenita. Although the nature of the disease in his cases was never confirmed by histological examinations, he is credited with the concept of congenital myopathy. Subsequent

REFERENCES

1 +
Batten, F.E.:  Infantile Type of Myopathy , Brain 26:147-148, 1903;.
2 +
Howard, R.:  A Case of Congenital Defect of the Muscular System (Dystrophia Muscularis Congenita) and Its Association With Congenital Talipes Equino-Varus , Proc Roy Soc Med 1:157-166, 1908;.
3 +
Collier, J., and Holmes, G.:  The Pathological Examination of Two Cases of Amyotonia Congenita with the Clinical Description of a Fresh Case , Brain 32:269-284, 1909;.
4 +
Lereboullet, M.M., and Baudouin, F.:  Un cas de myotonie congénitale avec autopsie , Bull Soc Med Hop Paris 27:1162, 1909;.
5 +
Schlivek, K.:  Report of a Case of Congenital Muscular Dystrophy , Arch Pediat 27:34-36, 1910;.
6 +
Councilman, W.T., and Dunn, C.H.:  Myotonia Congenita: A Report of a Case with Autopsy , Amer J Dis Child 2:340-355, 1911;.
7 +
Batten, F.E.:  Simple Atrophic Type of Myopathy: So-Called Myotonia Congenita or Amytonia Congenita , Proc Roy Soc Med 4:100-103, 1910-11;.
8 +
Batten, F.E.:  Case of Amyotonia Congenita , Proc Roy Soc Med 10:47, 1916-17;.
9 +
Reuben, M.S.:  Amyotonia Congenita of Oppenheim: A Report of Six Cases, with a Full Review of the Literature , Arch Intern Med 20: 657-700, 1917;.
10 +
Haushalter, P.:  Sur la myotonie congénitale , Arch Méd Enf 23:133, 1920;.
11 +
Silberberg, M.:  Uber die pathologische Anatomie der Myotonia congenita und die Muskel dystrophien im allgemeinen , Virchow Arch Path Anat 242:42-57, 1923;.
12 +
Ullrich, O.:  Kongenitale atonisch-sklerotische Muskeldystrophie , Msch Kinderheilk 27:502-510, 1930;.
13 +
Menges, O.:  Ein Beitrag zur Pathologie der Myotonia congenita , Dteusch Z Nervenheilk 121: 240-254, 1931;.
14 +
De Lange, C.:  Studien uber angeborene Lähmungen bzw angeborene Hypotonie , Acta Pediat 20 ( (Suppl) ):111 1-51, 1937;.
15 +
Stoeber, E.:  Uber atonisch-sklerotische Muskeldystrophie (Typ Ullrich) , Z Kinderheilk 60: 279-284, 1939;.
16 +
Turner, J.W.A.:  The Relationship between Amytonia Congenita and Congenital Myopathy , Brain 63:163-177, 1940;.
17 +
Turner, J.W.A.:  On Amyotonia Congenita , Brain 72:25-34, 1949;.
18 +
Brandt, S.: Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy , Copenhagen: Ejnar Munksgaard, 1950;.
19 +
Richter, R.B., and Humphreys, E.M.:  Unusual Myopathy: Presentation of Two Cases with Muscle Biopsies , Arch Neurol 73:574-575, 1955;.
20 +
Banker, B.W.; Victor, M.; and Adams, R.:  Arthrogryposis Multiplex due to Congenital Muscular Dystrophy , Brain 80:319-333, 1957;.
21 +
Dubansky, V.B., and Svoboda, E.:  Angeborene beiderseitige Gesichtsmuskellähmung myopathischen Ursprungs , Confin Neurol 17:130-143, 1957;.
22 +
Greenfield, J.G.; Cornman, T.; and Shy, M.:  The Prognostic Value of the Muscle Biopsy in the "Floppy Infant," Brain 81:461-484, 1958;.
23 +
O'Brien, M.D.:  An Infantile Muscular Dystrophy: Report of a Case with Autopsy Findings , Guys Hosp Rep 111:98-106, 1962;.
24 +
Lelong, M., et al:  Myopathie chez une fille de 9 ans révélée à la naissance par une hypotonie musculaire généralisée , Arch Franc Pediat 19: 581-596, 1962;.
25 +
Lewis, A.J., and Besant, D.F.:  Muscular Dystrophy in Infancy: Report of two Cases in Siblings with Diaphragmatic Weakness , J Pediat 60:376-384, 1962;.
26 +
Turner, J.W.A., and Lees, F.:  Congenital Myopathy: A Fifty Year Follow Up , Brain 85: 733-740, 1962;.
27 +
Short, J.K.:  Congenital Muscular Dystrophy: A Case Report with Autopsy Findings , Neurology 13:526-530, 1963;.
28 +
Pearson, C.M., and Fowler, W.G.:  Hereditary Nonprogressive Muscular Dystrophy Inducing Arthrogryposis Syndrome , Brain 86:75-88, 1963;.
29 +
Wharton, B.S.:  An Unusual Variety of Muscular Dystrophy , Lancet 1:248-249, 1965;.
30 +
Fontaine, J.L., et al:  Les Myopathies congénitales: A propos de 2 observations , Ann Pediat 41:1563-1568, 1965;.
31 +
Bharucha, E.P., et al:  The Natural History of Neural Muscular Atrophy and Infantile Muscular Dystrophy , Proceedings 8th International Congress of Neurology 2:333-338, 1965;.
32 +
Matsumoto, T.; Haraguchi, H.; and Yoshizawa, Y.:  A Study of the Amyotonia Congenita Syndrome , Transcripts 11th International Congress of Pediatrics , Tokyo, 1965;.
33 +
Walton, J.N., and Nattrass, F.J.:  On the Classification, Natural History, and Treatment of the Myopathies , Brain 77:169-231, 1956;.
34 +
Shy, G.M., and Magee, R.:  A New Congenital Nonprogressive Myopathy , Brain 79:610-621, 1956;.
35 +
Zellweger, H.:  Congenital Myopathies and their Differential Diagnosis , Päd Fortbildungskurse 18:105-138, 1966;.
36 +
Pearce, G.W.; Pearce, J.M.S.; and Walton, J.N.:  The Duchenne Type of Muscular Dystrophy: Histopathological Studies of the Carrier State , Brain 89:109-120, 1966;.
37 +
Stevenson, A.C.:  Muscular Dystrophy in Northern Ireland , Ann Hum Genet 27:311-314, 1964;.
38 +
Fiore, G.:  Contributo allo studio delle miopatie della prima infanzia , Riv Clin Pediat 22: 606-636, 1924;.
39 +
Gubbay, S.S.; Walton, J.N.; and Pearce, G.W.:  Clinical and Pathological Study of a Case of Congenital Muscular Dystrophy , J Neurol Neurosurg Psychiat 29:500-515, 1966;.
40 +
Aebi, V., et al:  Progressive Muskeldystrophie: 3 Serumenzyme bei der Muskeldystrophie im Kindesalter , Helv Paediat Acta 16:543-564, 1961;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Batten, F.E.:  Infantile Type of Myopathy , Brain 26:147-148, 1903;.
2 +
Howard, R.:  A Case of Congenital Defect of the Muscular System (Dystrophia Muscularis Congenita) and Its Association With Congenital Talipes Equino-Varus , Proc Roy Soc Med 1:157-166, 1908;.
3 +
Collier, J., and Holmes, G.:  The Pathological Examination of Two Cases of Amyotonia Congenita with the Clinical Description of a Fresh Case , Brain 32:269-284, 1909;.
4 +
Lereboullet, M.M., and Baudouin, F.:  Un cas de myotonie congénitale avec autopsie , Bull Soc Med Hop Paris 27:1162, 1909;.
5 +
Schlivek, K.:  Report of a Case of Congenital Muscular Dystrophy , Arch Pediat 27:34-36, 1910;.
6 +
Councilman, W.T., and Dunn, C.H.:  Myotonia Congenita: A Report of a Case with Autopsy , Amer J Dis Child 2:340-355, 1911;.
7 +
Batten, F.E.:  Simple Atrophic Type of Myopathy: So-Called Myotonia Congenita or Amytonia Congenita , Proc Roy Soc Med 4:100-103, 1910-11;.
8 +
Batten, F.E.:  Case of Amyotonia Congenita , Proc Roy Soc Med 10:47, 1916-17;.
9 +
Reuben, M.S.:  Amyotonia Congenita of Oppenheim: A Report of Six Cases, with a Full Review of the Literature , Arch Intern Med 20: 657-700, 1917;.
10 +
Haushalter, P.:  Sur la myotonie congénitale , Arch Méd Enf 23:133, 1920;.
11 +
Silberberg, M.:  Uber die pathologische Anatomie der Myotonia congenita und die Muskel dystrophien im allgemeinen , Virchow Arch Path Anat 242:42-57, 1923;.
12 +
Ullrich, O.:  Kongenitale atonisch-sklerotische Muskeldystrophie , Msch Kinderheilk 27:502-510, 1930;.
13 +
Menges, O.:  Ein Beitrag zur Pathologie der Myotonia congenita , Dteusch Z Nervenheilk 121: 240-254, 1931;.
14 +
De Lange, C.:  Studien uber angeborene Lähmungen bzw angeborene Hypotonie , Acta Pediat 20 ( (Suppl) ):111 1-51, 1937;.
15 +
Stoeber, E.:  Uber atonisch-sklerotische Muskeldystrophie (Typ Ullrich) , Z Kinderheilk 60: 279-284, 1939;.
16 +
Turner, J.W.A.:  The Relationship between Amytonia Congenita and Congenital Myopathy , Brain 63:163-177, 1940;.
17 +
Turner, J.W.A.:  On Amyotonia Congenita , Brain 72:25-34, 1949;.
18 +
Brandt, S.: Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy , Copenhagen: Ejnar Munksgaard, 1950;.
19 +
Richter, R.B., and Humphreys, E.M.:  Unusual Myopathy: Presentation of Two Cases with Muscle Biopsies , Arch Neurol 73:574-575, 1955;.
20 +
Banker, B.W.; Victor, M.; and Adams, R.:  Arthrogryposis Multiplex due to Congenital Muscular Dystrophy , Brain 80:319-333, 1957;.
21 +
Dubansky, V.B., and Svoboda, E.:  Angeborene beiderseitige Gesichtsmuskellähmung myopathischen Ursprungs , Confin Neurol 17:130-143, 1957;.
22 +
Greenfield, J.G.; Cornman, T.; and Shy, M.:  The Prognostic Value of the Muscle Biopsy in the "Floppy Infant," Brain 81:461-484, 1958;.
23 +
O'Brien, M.D.:  An Infantile Muscular Dystrophy: Report of a Case with Autopsy Findings , Guys Hosp Rep 111:98-106, 1962;.
24 +
Lelong, M., et al:  Myopathie chez une fille de 9 ans révélée à la naissance par une hypotonie musculaire généralisée , Arch Franc Pediat 19: 581-596, 1962;.
25 +
Lewis, A.J., and Besant, D.F.:  Muscular Dystrophy in Infancy: Report of two Cases in Siblings with Diaphragmatic Weakness , J Pediat 60:376-384, 1962;.
26 +
Turner, J.W.A., and Lees, F.:  Congenital Myopathy: A Fifty Year Follow Up , Brain 85: 733-740, 1962;.
27 +
Short, J.K.:  Congenital Muscular Dystrophy: A Case Report with Autopsy Findings , Neurology 13:526-530, 1963;.
28 +
Pearson, C.M., and Fowler, W.G.:  Hereditary Nonprogressive Muscular Dystrophy Inducing Arthrogryposis Syndrome , Brain 86:75-88, 1963;.
29 +
Wharton, B.S.:  An Unusual Variety of Muscular Dystrophy , Lancet 1:248-249, 1965;.
30 +
Fontaine, J.L., et al:  Les Myopathies congénitales: A propos de 2 observations , Ann Pediat 41:1563-1568, 1965;.
31 +
Bharucha, E.P., et al:  The Natural History of Neural Muscular Atrophy and Infantile Muscular Dystrophy , Proceedings 8th International Congress of Neurology 2:333-338, 1965;.
32 +
Matsumoto, T.; Haraguchi, H.; and Yoshizawa, Y.:  A Study of the Amyotonia Congenita Syndrome , Transcripts 11th International Congress of Pediatrics , Tokyo, 1965;.
33 +
Walton, J.N., and Nattrass, F.J.:  On the Classification, Natural History, and Treatment of the Myopathies , Brain 77:169-231, 1956;.
34 +
Shy, G.M., and Magee, R.:  A New Congenital Nonprogressive Myopathy , Brain 79:610-621, 1956;.
35 +
Zellweger, H.:  Congenital Myopathies and their Differential Diagnosis , Päd Fortbildungskurse 18:105-138, 1966;.
36 +
Pearce, G.W.; Pearce, J.M.S.; and Walton, J.N.:  The Duchenne Type of Muscular Dystrophy: Histopathological Studies of the Carrier State , Brain 89:109-120, 1966;.
37 +
Stevenson, A.C.:  Muscular Dystrophy in Northern Ireland , Ann Hum Genet 27:311-314, 1964;.
38 +
Fiore, G.:  Contributo allo studio delle miopatie della prima infanzia , Riv Clin Pediat 22: 606-636, 1924;.
39 +
Gubbay, S.S.; Walton, J.N.; and Pearce, G.W.:  Clinical and Pathological Study of a Case of Congenital Muscular Dystrophy , J Neurol Neurosurg Psychiat 29:500-515, 1966;.
40 +
Aebi, V., et al:  Progressive Muskeldystrophie: 3 Serumenzyme bei der Muskeldystrophie im Kindesalter , Helv Paediat Acta 16:543-564, 1961;.

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