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May 1995, Vol 52, No. 5 >
Article | May 1995

Natural History in Proximal Spinal Muscular Atrophy: Title and subTitle BreakClinical Analysis of 445 Patients and Suggestions for a Modification of Existing Classifications

Klaus Zerres, MD; Sabine Rudnik-Schöneborn, MD
Arch Neurol. 1995;52(5):518-523. doi:10.1001/archneur.1995.00540290108025
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Objectives:  To describe the natural history in all types of proximal spinal muscular atrophy (SMA) and to propose a modified classification scheme that takes the longterm course of SMA into account.

Design:  Patients with proximal SMA were studied prospectively and retrospectively in a genetic study that was based on clinical and family data.

Patients:  Four hundred forty-five patients with SMA were ascertained since 1985 through various departments of neurology and neuropediatrics, institutes of human genetics, and the German muscular dystrophy association (Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany).

Results:  The study group was subdivided into patients with four types of SMA (ie, SMA types I, II, III, and IV) on the basis of achieved motor development and age at onset. Survival probabilities at 2, 4, 10, and 20 years of age were 32%, 18%, 8%, and 0%, respectively, in patients with SMA type I (those who were never able to sit) and 100%, 100%, 98%, and 77%, respectively, in patients with SMA type II (those who were able to sit but were unable to walk). Nineteen of 104 patients with SMA type II lost the ability to sit; this inability to sit was not of prognostic relevance. Patients with SMA type III (those who were able to walk [age at onset, younger than 30 years]) were subdivided into those with an age at onset before (SMA type IIIa) and after (SMA type IIIb) 3 years. The probabilities of being ambulatory at 10, 20, and 40 years after onset were 73%, 44%, and 34%, respectively, in patients with SMA type IIIa, and they were 97%, 89%, and 67%, respectively, in patients with SMA type IIIb.

Conclusions:  The definition of long-term characteristics of SMA is helpful in providing medical care to families with members who have SMA and also in providing important information for future genotype-phenotype studies and therapeutic trials of patients with SMA. Our data indicate that the widely used classification schemes did not consider the broad spectrum of SMA so a practical modification was suggested.

REFERENCES

1 +
Dubowitz V.  Chaos in classification of spinal muscular atrophies of childhood . Neuromusc Disord . 1991;;1:77-80.
2 +
Russman BS, lannacone ST, Buncher CR, et al.  Spinal muscular atrophy: new thoughts on the pathogenesis and classification scheme . J Child Neurol . 1992;; 7:347-353.
3 +
Zerres K, Stephan M, Kehren U, Grimm T.  Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy . Clin Genet . 1987;;31:276-277.
4 +
Müller B, Melki J, Burlet P, Clerget-Darpoux F.  Proximal spinal muscular atrophy types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q . Am J Hum Genet . 1992;;50:892-895.
5 +
Rudnik-Schöneborn S, Röhrig D, Morgan G, Wirth B, Zerres K.  Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications . Am J Med Genet . 1994;;51:70-76.
6 +
Munsat TL, Davies KE.  Meeting report: International SMA Consortium meeting . Neuromusc Disord . 1992;;2:423-428.
7 +
Bayley N. Manual for the Bayley Scales of Infant Development . Berkeley, Calif: Institute of Human Development, University of California; 1969;.
8 +
Dalton FD, Forman MA, Muller BA.  Growth and development . In: Behrman RE, ed. Nelson Textbook of Pediatrics . Philadelphia, Pa: WB Saunders Co; 1992;: 21-22.
9 +
Pearn JH.  The use of motor milestones to determine retrospectively the clinical onset of disease . Aust Paediatr J . 1974;;10:147-153.
10 +
Neligan G, Prudham D.  Norms for four standard developmental milestones by sex, social class and place in family . Dev Med Child Neurol . 1969;;11:413-422.
11 +
Rietschel M, Rudnik-Schöneborn S, Zerres K.  Clinical variability of autosomal dominant spinal muscular atrophy . J Neurol Sci . 1992;;107:65-73.
12 +
Matthews DE, Farewell VT. Using and Understanding Medical Statistics . New York, NY: S Karger AG; 1988;.
13 +
Pearn J.  Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy . J Med Genet . 1978;;15:409-413.
14 +
Pearn J.  The gene frequency of acute Werdnig-Hoffmannn disease (SMA type 1): a total population survey in North-East England . J Med Genet . 1973;;10: 260-265.
15 +
Spiegler AWJ, Hausmanowa-Petrusewicz I, Borkowska J, Klopocka A.  Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw . Hum Genet . 1990;;85:211-214.
16 +
Thieme A, Mitulla B, Schulze F, Spiegler AWJ.  Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen) . Hum Genet . 1993;;91:295-297.
17 +
Thieme A, Spiegler AWJ.  First epidemiological data on chronic forms of spinal muscular atrophy in childhood (CSMA) in Germany (West-Thuringia) . Med Genet . 1993;;1:115.
18 +
Emery AEH. Duchenne Muscular Dystrophy . New York, NY: Oxford University Press Inc; 1987;.
19 +
Hausmanowa-Petrusewicz I.  A research strategy for the resolution of childhood spinal muscular atrophy (SMA) . In: Merlini L, Granata C, Dubowitz V, eds. Current Concepts in Childhood Spinal Muscular Atrophy . New York, NY: Springer-Verlag NY Inc; 1989;.
20 +
Dubowitz V. Muscle Disorders in Childhood . Philadelphia, Pa: WB Saunders Co; 1978;.
21 +
Pearn J.  Classification of spinal muscular atrophies . Lancet . 1980;;1:919-922.
22 +
Byers RK, Banker BQ.  Infantile muscular atrophy . Arch Neurol . 1961;;5:131-135.
23 +
Fried K, Emery AEH.  Spinal muscular atrophy, type II: a separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type III (Kugelberg-Welander disease) . Clin Genet . 1971;;2:203-209.
24 +
Harding AE.  Inherited neuronal atrophy and degeneration predominantly of lower motor neurons . In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, eds. Peripheral Neuropathy . Philadelphia, Pa: WB Saunders Co; 1984;:1537-1556.
25 +
Bundey S, Lovelace RE.  A clinical study of chronic proximal spinal muscular atrophy . Brain . 1975;;96:455-472.
26 +
Tonali P, Servidei S, Uncini A, Restuccia D, Galluzzi G.  Clinical study of proximal spinal muscular atrophy: report on 89 cases . Ital J Neurol Sci . 1984;;5: 423-432.
27 +
Ignatius J. Childhood Spinal Muscular Atrophy in Finland . Tampere, Finland: Acta Universitas Tamperensis; 1992;.
28 +
Brandt S. Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy . Copenhagen, Denmark: Munksgaard International Publishers Ltd; 1950;.
29 +
Munsat TL, Woods R, Fowler W, Pearson CM.  Neurogenic muscular atrophy of infancy with prolonged survival . Brain . 1969;;92:9-24.
30 +
Dubowitz V.  Infantile muscular atrophy: a broad spectrum . Clin Proc Child Hosp Washington, DC . 1967;;23:223-239.
31 +
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J.  Chronic proximal spinal muscular atrophy of childhood and adolescence: problems for classification and genetic counselling . J Med Genet . 1985;;22:350-353.
32 +
Zerres K. Klassifikation und Genetik spinaler Muskelatrophien . Stuttgart, Germany: Georg Thieme Verlag; 1989;.
33 +
Pearn J, Bundey S, Carter CO, Wilson J, Garner-Medwin D, Walton JN.  A genetic study of subacute and chronic spinal muscular atrophy in childhood . J Neurol Sci . 1978;;37:227-248.
34 +
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J.  Chronic form of childhood spinal muscular atrophy: are the problems of its genetics really solved? J Neurol Sci . 1979;;43:313-327.
35 +
Hausmanowa-Petrusewicz I. Spinal Muscular Atrophy: Infantile and Juvenile Type . Springfield, Va: National Science Foundation; 1978;.

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1 +
Dubowitz V.  Chaos in classification of spinal muscular atrophies of childhood . Neuromusc Disord . 1991;;1:77-80.
2 +
Russman BS, lannacone ST, Buncher CR, et al.  Spinal muscular atrophy: new thoughts on the pathogenesis and classification scheme . J Child Neurol . 1992;; 7:347-353.
3 +
Zerres K, Stephan M, Kehren U, Grimm T.  Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy . Clin Genet . 1987;;31:276-277.
4 +
Müller B, Melki J, Burlet P, Clerget-Darpoux F.  Proximal spinal muscular atrophy types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q . Am J Hum Genet . 1992;;50:892-895.
5 +
Rudnik-Schöneborn S, Röhrig D, Morgan G, Wirth B, Zerres K.  Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications . Am J Med Genet . 1994;;51:70-76.
6 +
Munsat TL, Davies KE.  Meeting report: International SMA Consortium meeting . Neuromusc Disord . 1992;;2:423-428.
7 +
Bayley N. Manual for the Bayley Scales of Infant Development . Berkeley, Calif: Institute of Human Development, University of California; 1969;.
8 +
Dalton FD, Forman MA, Muller BA.  Growth and development . In: Behrman RE, ed. Nelson Textbook of Pediatrics . Philadelphia, Pa: WB Saunders Co; 1992;: 21-22.
9 +
Pearn JH.  The use of motor milestones to determine retrospectively the clinical onset of disease . Aust Paediatr J . 1974;;10:147-153.
10 +
Neligan G, Prudham D.  Norms for four standard developmental milestones by sex, social class and place in family . Dev Med Child Neurol . 1969;;11:413-422.
11 +
Rietschel M, Rudnik-Schöneborn S, Zerres K.  Clinical variability of autosomal dominant spinal muscular atrophy . J Neurol Sci . 1992;;107:65-73.
12 +
Matthews DE, Farewell VT. Using and Understanding Medical Statistics . New York, NY: S Karger AG; 1988;.
13 +
Pearn J.  Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy . J Med Genet . 1978;;15:409-413.
14 +
Pearn J.  The gene frequency of acute Werdnig-Hoffmannn disease (SMA type 1): a total population survey in North-East England . J Med Genet . 1973;;10: 260-265.
15 +
Spiegler AWJ, Hausmanowa-Petrusewicz I, Borkowska J, Klopocka A.  Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw . Hum Genet . 1990;;85:211-214.
16 +
Thieme A, Mitulla B, Schulze F, Spiegler AWJ.  Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen) . Hum Genet . 1993;;91:295-297.
17 +
Thieme A, Spiegler AWJ.  First epidemiological data on chronic forms of spinal muscular atrophy in childhood (CSMA) in Germany (West-Thuringia) . Med Genet . 1993;;1:115.
18 +
Emery AEH. Duchenne Muscular Dystrophy . New York, NY: Oxford University Press Inc; 1987;.
19 +
Hausmanowa-Petrusewicz I.  A research strategy for the resolution of childhood spinal muscular atrophy (SMA) . In: Merlini L, Granata C, Dubowitz V, eds. Current Concepts in Childhood Spinal Muscular Atrophy . New York, NY: Springer-Verlag NY Inc; 1989;.
20 +
Dubowitz V. Muscle Disorders in Childhood . Philadelphia, Pa: WB Saunders Co; 1978;.
21 +
Pearn J.  Classification of spinal muscular atrophies . Lancet . 1980;;1:919-922.
22 +
Byers RK, Banker BQ.  Infantile muscular atrophy . Arch Neurol . 1961;;5:131-135.
23 +
Fried K, Emery AEH.  Spinal muscular atrophy, type II: a separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type III (Kugelberg-Welander disease) . Clin Genet . 1971;;2:203-209.
24 +
Harding AE.  Inherited neuronal atrophy and degeneration predominantly of lower motor neurons . In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, eds. Peripheral Neuropathy . Philadelphia, Pa: WB Saunders Co; 1984;:1537-1556.
25 +
Bundey S, Lovelace RE.  A clinical study of chronic proximal spinal muscular atrophy . Brain . 1975;;96:455-472.
26 +
Tonali P, Servidei S, Uncini A, Restuccia D, Galluzzi G.  Clinical study of proximal spinal muscular atrophy: report on 89 cases . Ital J Neurol Sci . 1984;;5: 423-432.
27 +
Ignatius J. Childhood Spinal Muscular Atrophy in Finland . Tampere, Finland: Acta Universitas Tamperensis; 1992;.
28 +
Brandt S. Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy . Copenhagen, Denmark: Munksgaard International Publishers Ltd; 1950;.
29 +
Munsat TL, Woods R, Fowler W, Pearson CM.  Neurogenic muscular atrophy of infancy with prolonged survival . Brain . 1969;;92:9-24.
30 +
Dubowitz V.  Infantile muscular atrophy: a broad spectrum . Clin Proc Child Hosp Washington, DC . 1967;;23:223-239.
31 +
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J.  Chronic proximal spinal muscular atrophy of childhood and adolescence: problems for classification and genetic counselling . J Med Genet . 1985;;22:350-353.
32 +
Zerres K. Klassifikation und Genetik spinaler Muskelatrophien . Stuttgart, Germany: Georg Thieme Verlag; 1989;.
33 +
Pearn J, Bundey S, Carter CO, Wilson J, Garner-Medwin D, Walton JN.  A genetic study of subacute and chronic spinal muscular atrophy in childhood . J Neurol Sci . 1978;;37:227-248.
34 +
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J.  Chronic form of childhood spinal muscular atrophy: are the problems of its genetics really solved? J Neurol Sci . 1979;;43:313-327.
35 +
Hausmanowa-Petrusewicz I. Spinal Muscular Atrophy: Infantile and Juvenile Type . Springfield, Va: National Science Foundation; 1978;.

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