Proximale Spinale Muskelatrophien (SMA)

A. Fujak; K. H. Wollinsky; R. Forst

doi:10.1055/s-2007-964871

Zeitschrift für Orthopädie und Unfallchirurgie, Table of Contents

Z Orthop Unfall 2007; 145(2): 233-252
DOI: 10.1055/s-2007-964871

Refresher Orthopädie und Unfallchirurgie

Georg Thieme Verlag KG Stuttgart · New York

Proximale Spinale Muskelatrophien (SMA)

Proximal Spinal Muscular Atrophy (SMA)A. Fujak¹ , K. H. Wollinsky² , R. Forst¹

¹Orthopädische Universitätsklinik der Friedrich-Alexander-Universität Erlangen-Nürnberg
²Klinik für Anästhesiologie/Intensivmedizin, Rehabilitationskrankenhaus, Orthopädische und Neurologische Klinik der Universität Ulm

Abstract

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References

Literatur

1 Schrank B, Götz R, Gunnersen J M, Ure J M, Toyka K V, Smith A G, Sendtner M. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci USA. 1997; 94 9920-9925
2 Zerres K, Rudnik-Schöneborn S, Wirth B. Proximale spinale Muskelatrophien. Dt Ärztebl. 1998; 95 A 1667-1674
3 Rudnik-Schöneborn S, de Visser M, Zerres K. Spinal Muscular Atrophies. Engel A, Franzini-Armstrong C Myology. New York; McGraw-Hill 2004: 1845-1864
4 Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997; 146 67-72
5 Borkowska J, Rudnik-Schoneborn S, Hausmanowa-Petrusewicz I, Zerres K. Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival. Folia Neuropathol. 2002; 40 19-26
6 Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel R S, Hughes R A, Iannaccone S T, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda K J, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11 - 13 February 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005; 15 802-816
7 Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995; 52 518-523
8 Emery A E, Hausmanowa-Petrusewicz I, Davie A M, Holloway S, Skinner R, Borkowska J. International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data. J Neurol Sci. 1976; 29 83-94
9 Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J. Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. J Med Genet. 1985; 22 350-353
10 Zerres K. Classification and genetics of proximal spinal muscular atrophies. Prog Clin Biol Res. 1989; 306 85-89
11 Kausch K, Muller C R, Grimm T, Ricker K, Rietschel M, Rudnik-Schoneborn S, Zerres K. No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5 q markers. Hum Genet. 1991; 86 317-318
12 Brzustowicz L M, Lehner T, Castilla L H, Penchaszadeh G K, Wilhelmsen K C, Daniels R, Davies K E, Leppert M, Ziter F, Wood D. et al . Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2 - 13.3. Nature. 1990; 344 540-541
13 Melki J, Abdelhak S, Sheth P, Bachelot M F, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere J P, Fardeau M. et al . Gene for chronic proximal spinal muscular atrophies maps to chromosome 5 q. Nature. 1990; 344 767-768
14 Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M. et al . Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80 155-165
15 Gambardella A, Mazzei R, Toscano A, Annesi G, Pasqua A, Annesi F, Quattrone F, Oliveri R L, Valentino P, Bono F, Aguglia U, Zappia M, Vita G, Quattrone A. Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. Ann Neurol. 1998; 44 836-839
16 Beroud C, Karliova M, Bonnefont J P, Benachi A, Munnich A, Dumez Y, Lacour B, Paterlini-Brechot P. Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells. Lancet. 2003; 361 1013-1014
17 Pellizoni L, Kataoka N, Charroux B, Dreyfuss G. A novel function for SMN, The spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell. 1998; 95 615-624
18 Sendtner M. Molecular mechanisms in spinal muscular atrophy: models and perspectives. Curr Opin Neurol. 2001; 14 629-634
19 Feldkotter M, Schwarzer V, Wirth R, Wienker T F, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002; 70 358-368
20 Mortier W. Muskel- und Nervenerkrankungen im Kindesalter. Stuttgart, New York; Georg Thieme 1994
21 Zerres K, Rudnik-Schoneborn S, Forkert R, Wirth B. Genetic basis of adult-onset spinal muscular atrophy. Lancet. 1995; 346 1162
22 Pearn J H. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. J Med Genet. 1973; 10 260-265
23 Spiegler A W, Hausmanowa-Pertrusewicz I, Borkowska J, Klopocka A. Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw. Hum Genet. 1990; 85 211-214
24 Pearn J, Hudgson P. Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds. J Neurol Sci. 1979; 43 183-191
25 Zerres K, Davies K E. 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17 - 19 April 1998, Soestduinen, The Netherlands. Neuromuscul Disord. 1999; 9 272-278
26 Rudnik-Schoneborn S, Hausmanowa-Petrusewicz I, Borkowska J, Zerres K. The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III. Eur Neurol. 2001; 45 174-181
27 Dorsher P T, Sinaki M, Mulder D W, Litchy W J, Ilstrup D M. Wohlfart-Kugelberg-Welander syndrome: serum creatine kinase and functional outcome. Arch Phys Med Rehabil. 1991; 72 587-591
28 Rudnik-Schoneborn S, Lutzenrath S, Borkowska J, Karwanska A, Hausmanowa-Petrusewicz I, Zerres K. Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I - III from the point of view of progression and severity. Eur Neurol. 1998; 39 154-162
29 Forst R, Ingenhorst A, Mortier W. Neuromuskuläre Systemerkrankungen. Zichner L Orthopädie und Orthopädische Chirurgie. Systemerkrankungen. Stuttgart, New York; Thieme 2003: 243-254
30 Birch J G. Orthopedic management of neuromuscular disorders in children. Semin Pediatr Neurol. 1998; 5 78-91
31 Iannaccone S T. Spinal muscular atrophy. Semin Neurology. 1998; 18 19-26
32 Evans G A, Drennan J C, Russman B S. Functional classification and orthopaedic management of spinal muscular atrophy. J Bone Joint Surg [Br]. 1981; 63 516-522
33 Granata C, Merlini L, Magni E, Marini M L, Stagni S B. Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis. Spine. 1989; 14 760-762
34 Rodillo E, Marini M L, Heckmatt J Z, Dubowitz V. Scoliosis in spinal muscular atrophy: review of 63 cases. J Child Neurol. 1989; 4 118-123
35 Carter G T, Abresch R T, Fowler Jr. W M, Johnson E R, Kilmer D D, McDonald C M. Profiles of neuromuscular diseases. Spinal muscular atrophy. Am J Phys Med Rehabil. 1995; 74 (5 Suppl) 150-159
36 Robinson D, Galasko C S, Delaney C, Williamson J B, Barrie J L. Scoliosis and lung function in spinal muscular atrophy. Eur Spine J. 1995; 4 268-273
37 Lonstein J E. Management of spinal deformity in spinal muscular atrophy. Merlini L, Granata C, Dubowitz V Current concepts in childhood spinal muscular atrophy. Wien, New York; Springer 1989: 165-174
38 Vignos Jr P J. Physical models of rehabilitation in neuromuscular disease. Muscle Nerve. 1983; 6 323-338
39 McCartney N, Moroz D, Garner S H, McComas A J. The effects of strength training in patients with selected neuromuscular disorders. Med Sci Sports Exerc. 1988; 20 362-368
40 Forst R, Forst J, Heller K D, Hengstler K. Besonderheiten in der Behandlung von Skoliosen bei Muskelsystemerkrankungen. Z Orthop. 1997; 137 95-105
41 Hsu J D. Surgical correction of foot deformity in the SMA patient. Orthopaedic Review. 1979; 8 101-104
42 Miller G, O'Connor J. Spinal bracing and respiratory function in Duchenne muscular dystrophy. Clin Pediatr (Phila). 1985; 24 94
43 Noble-Jamieson C M, Heckmatt J Z, Dubowitz V, Silverman M. Effects of posture and spinal bracing on respiratory function in neuromuscular disease. Arch Dis Child. 1986; 61 178-181
44 Forst R, Benning J, Forst J, Hengstler K. Indikation und Grenzen der Korsettversorgung bei Muskelkrankheiten. Med Orthop Techn. 1990; 110 88-95
45 Riddick M F, Winter R B, Lutter L D. Spinal deformities in patients with spinal muscular atrophy. Spine. 1982; 7 476-483
46 Wollinsky K H, Minde A, Schreiber H, Kluger P, Mehrkens H H. Effektivität der Heimbeatmung bei Kleinkindern und Säuglingen. Med Klin. 1995; 90 57-59
47 Bach J R, Niranjan V, Weaver B. Spinal muscular atrophy type 1: A noninvasive respiratory management approach. Chest. 2000; 117 1100-1105
48 Miller R G, Moore D H, Dronsky V, Bradley W, Barohn R, Bryan W, Prior T W, Gelinas D F, Iannaccone S, Kissel J, Leshner R, Mendell J, Mendoza M, Russman B, Samaha F, Smith S. SMA Study Group . A placebo-controlled trial of gabapentin in spinal muscular atrophy. J Neurol Sci. 2001; 191 127-131
49 Merlini L, Solari A, Vita G, Bertini E, Minetti C, Mongini T, Mazzoni E, Angelini C, Morandi L. Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. J Child Neurol. 2003; 18 537-541
50 Russman B S, Iannaccone S T, Samaha F J. A phase 1 trial of riluzole in spinal muscular atrophy. Arch Neurol. 2003; 60 1601-1603
51 Andreassi C, Angelozzi C, Tiziano F D, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, Brahe C. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet. 2004; 12 59-65
52 Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano F D, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Pilot trial of phenylbutyrate in spinal muscular atrophy. Neuromuscul Disord. 2004; 14 130-135
53 Brahe C, Vitali T, Tiziano F D, Angelozzi C, Pinto A M, Borgo F, Moscato U, Bertini E, Mercuri E, Neri G. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet. 2005; 13 256-259
54 Brichta L, Hofmann Y, Hahnen E, Siebzehnrubl F A, Raschke H, Blumcke I, Eyupoglu I Y, Wirth B. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet. 2003; 12 2481-2489
55 Sumner C J, Huynh T N, Markowitz J A, Perhac J S, Hill B, Coovert D D, Schussler K, Chen X, Jarecki J, Burghes A H, Taylor J P, Fischbeck K H. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol. 2003; 54 647-654
56 Brichta L, Haug K, Sun Y, Stier S, Klockgether T, Wirth B. Pilot study of in-vivo effects of valproic acid on SMN gene expression in SMA carriers. Eur J Hum Genet. 2004; 1 Suppl. 1 5
57 Wollinsky K H, Mehrkens H H, Schenk W. Respiratorische Dekompensation unter Valproinsäuretherapie bei zwei bereits intermittierend beatmeten Kindern mit spinaler Muskelatrophie (SMA) Typ I. Abstract 13. Jahrestagung der Arbeitsgemeinschaft Heimbeatmung und Respiratorentwöhnung 2. - 4. 6. 2005 in Celle. 34
58 Shapiro F, Bresnan M J. Orthopaedic management of childhood neuromuscular disease. Part I: Spinal muscular atrophy. J Bone Joint Surg [A]. 1982; 64 785-789
59 Eng G D, Binder H, Koch B. Spinal muscular atrophy: Experience in diagnosis and rehabilitation management of 60 patients. Arch Phys Med Rehabil. 1984; 65 549-553
60 Schwentker E P, Gibson D A. The orthopaedic aspects of spinal muscular atrophy. J Bone Joint Surg [A]. 1976; 58 32-38
61 Hensinger R N, MacEwen D G. Spinal deformity associated with heritable neurological conditions: Spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia and Charcot-Marie-Tooth disease. J Bone Joint Surg [A]. 1976; 58 13-24
62 Aprin H, Bowen J R, MacEwen G D, Hall J E. Spine fusion in patients with spinal muscular atrophy. J Bone Joint Surg [A]. 1982; 64 1179-1187
63 Daher Y H, Lonstein J E, Winter R B, Bradford D S. Spinal surgery in spinal muscular atrophy. J Pediat Orthop. 1985; 5 391-395
64 Piasecki J O, Mahinpuor S, Levine D B. Long-term follow-up of spinal fusion in spinal muscular atrophy. Clin Orthop. 1986; 207 44-54
65 Brown J C, Zeller J L, Swank S M, Furumasu J, Warath S L. Surgical and functional results of spine fusion in spinal muscular atrophy. Spine. 1989; 14 763-770
66 Merlini L, Granata C, Bonfiglioli S, Marini M L, Cervellati S, Savini R. Scoliosis in spinal muscular atrophy: Natural history and management. Developmental Medicine and Child Neurology. 1989; 31 501-508
67 Hopf C, Forst R, Stürz H, Carstens C, Metz-Stavenhagen P. Indikation zur Operation bei kongenitalen und neuromuskulären Skoliosen. Dtsch Ärztebl. 1993; 43 (90 A) 2845-2852
68 Luque E R. Segmental spinal instrumentation (SSI) bei neuromuskulären Skoliosen. Orthopäde. 1989; 18 128-133
69 Fujak A, Ingenhorst A, Heuser K, Forst R, Forst J. Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood. Orthopedia Traumatologia Rehabilitacja. 2005; 7 175-179
70 Bellen P. Efficiency and safety of early spinal instrumentation. Neuromuscul Disord. 1996; 6 393
71 Allen Jr. B L, Ferguson R L. The Galveston technique of pelvic fixation with L‐rod instrumentation of the spine. Spine. 1984; 9 388-394
72 Shapiro F, Specht L. The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogyposis. J Bone Joint Surg [A]. 1993; 75 1699-1714
73 Miladi L T, Ghanem I B, Draoui M M, Zeller R D, Dubousset J F. Iliosacral screw fixation for pelvic obliquity in neuromuscular scoliosis. A long-term follow-up study. Spine. 1997; 22 1722-1729
74 Bentley G, Seingry D. Surgical treatment of neuromuscular scoliosis. Merlini L, Granata C, Dubowitz V Current Concepts in Childhood Spinal Muscular Atrophy. Wien, New York; Springer 1989: 193-198
75 Forbes H J, Allen P W, Waller C S, Jones S J, Edgar M A, Webb P J, Ransford A O. Spinal cord monitoring in scoliosis surgery. Experience with 1168 cases. J Bone Joint Surg [B]. 1991; 73 487-491

Dr. med. A. Fujak

Orthopädische Universitätsklinik der Friedrich-Alexander-Universität Erlangen-Nürnberg

Rathsberger Straße 59

91054 Erlangen

Email: a.fujak@t-online.de