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Volumn 20, Issue 1, 2010, Pages 34-43

Physical characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients

Author keywords

Assessment methods; Functional abilities; Muscle strength; Spinal muscular atrophy

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CHILD; CLINICAL ASSESSMENT; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FORCED EXPIRATORY VOLUME; FUNCTIONAL ASSESSMENT; HUMAN; JOINT MOBILITY; MAJOR CLINICAL STUDY; MALE; MUSCLE CONTRACTURE; MUSCLE STRENGTH; PHYSICAL CAPACITY; PRIORITY JOURNAL; SCOLIOSIS; SPINAL MUSCULAR ATROPHY;

EID: 74149091358     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.11.008     Document Type: Article
Times cited : (21)

References (44)
  • 1
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases: a world survey
    • Emery A.E.H. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1 (1991) 19-29
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.H.1
  • 2
    • 0026490348 scopus 로고
    • Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy
    • Merlini L., Stagni S.B., Marri E., and Granata C. Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy. Neuromuscul Disord 2 (1992) 197-200
    • (1992) Neuromuscul Disord , vol.2 , pp. 197-200
    • Merlini, L.1    Stagni, S.B.2    Marri, E.3    Granata, C.4
  • 3
    • 74149088748 scopus 로고    scopus 로고
    • A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy
    • Arkblad E., Tulinius M., Kroksmark A.K., Henricsson M., and Darin N. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr 1 (2009) 1-5
    • (2009) Acta Paediatr , vol.1 , pp. 1-5
    • Arkblad, E.1    Tulinius, M.2    Kroksmark, A.K.3    Henricsson, M.4    Darin, N.5
  • 4
    • 0027057672 scopus 로고
    • International SMA Consortium meeting report
    • Munsat T.L., and Davies K.E. International SMA Consortium meeting report. Neuromuscul Disord 2 (1992) 423-428
    • (1992) Neuromuscul Disord , vol.2 , pp. 423-428
    • Munsat, T.L.1    Davies, K.E.2
  • 5
    • 0036154959 scopus 로고    scopus 로고
    • 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
    • Feldkötter M., Schwarzer V., Wirth R., et al. 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 70 (2002) 358-362
    • (2002) Am J Hum Genet , vol.70 , pp. 358-362
    • Feldkötter, M.1    Schwarzer, V.2    Wirth, R.3
  • 6
    • 33645743043 scopus 로고    scopus 로고
    • Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    • Wirth B., Brichta L., Schrank B., et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119 (2006) 422-428
    • (2006) Hum Genet , vol.119 , pp. 422-428
    • Wirth, B.1    Brichta, L.2    Schrank, B.3
  • 7
    • 0028813584 scopus 로고
    • Chaos in the classification of SMA: a possible resolution
    • Dubowitz V. Chaos in the classification of SMA: a possible resolution. Neuromuscul Disord 5 (1995) 3-5
    • (1995) Neuromuscul Disord , vol.5 , pp. 3-5
    • Dubowitz, V.1
  • 8
    • 0017226009 scopus 로고
    • The orthopaedic aspects of spinal muscular atrophy
    • Schwentker E.P., and Gibson D.A. The orthopaedic aspects of spinal muscular atrophy. J Bone Joint Surg Am 58 (1976) 32-38
    • (1976) J Bone Joint Surg Am , vol.58 , pp. 32-38
    • Schwentker, E.P.1    Gibson, D.A.2
  • 9
    • 0028820179 scopus 로고
    • Profiles of neuromuscular diseases: spinal muscular atrophy
    • Carter G.T., Abresch R.T., Fowler W.M., et al. Profiles of neuromuscular diseases: spinal muscular atrophy. Am J Phys Med Rehabil 74 (1995) 150-159
    • (1995) Am J Phys Med Rehabil , vol.74 , pp. 150-159
    • Carter, G.T.1    Abresch, R.T.2    Fowler, W.M.3
  • 10
    • 0019468583 scopus 로고
    • Functional classification and orthopaedic management of spinal muscular atrophy
    • Evans G.A., Drennan J.C., and Russman B.S. Functional classification and orthopaedic management of spinal muscular atrophy. J Bone Joint Surg Br 63 (1981) 516-522
    • (1981) J Bone Joint Surg Br , vol.63 , pp. 516-522
    • Evans, G.A.1    Drennan, J.C.2    Russman, B.S.3
  • 12
    • 0019459890 scopus 로고
    • Preservation of the phrenic motoneurons in Werdnig-Hoffmann Disease
    • Kuzuhara S., and Chou S.M. Preservation of the phrenic motoneurons in Werdnig-Hoffmann Disease. Ann Neurol 9 (1981) 506-510
    • (1981) Ann Neurol , vol.9 , pp. 506-510
    • Kuzuhara, S.1    Chou, S.M.2
  • 14
    • 0028145097 scopus 로고
    • Pulmonary function in spinal muscular atrophy
    • Samaha F.J., Buncher C.R., Russmann B.S., et al. Pulmonary function in spinal muscular atrophy. J Child Neurol 9 (1994) 326-329
    • (1994) J Child Neurol , vol.9 , pp. 326-329
    • Samaha, F.J.1    Buncher, C.R.2    Russmann, B.S.3
  • 15
    • 0030454951 scopus 로고    scopus 로고
    • Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy
    • Souchon F., Simard L.R., Lebrun S., et al. Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy. Neuromuscul Disord 6 (1996) 419-424
    • (1996) Neuromuscul Disord , vol.6 , pp. 419-424
    • Souchon, F.1    Simard, L.R.2    Lebrun, S.3
  • 16
    • 0029162659 scopus 로고
    • Indicators of need for mechanical ventilation in Duchenne muscular dystrophy and spinal muscular atrophy
    • Lyager S., Steffensen B., and Juhl B. Indicators of need for mechanical ventilation in Duchenne muscular dystrophy and spinal muscular atrophy. Chest 108 (1995) 779-785
    • (1995) Chest , vol.108 , pp. 779-785
    • Lyager, S.1    Steffensen, B.2    Juhl, B.3
  • 17
    • 0026555354 scopus 로고
    • Upper extremity strength and function in children with SMA II
    • Koch B.M., and Simenson R.L. Upper extremity strength and function in children with SMA II. Arch Phys Med Rehabil 73 (1992) 241-245
    • (1992) Arch Phys Med Rehabil , vol.73 , pp. 241-245
    • Koch, B.M.1    Simenson, R.L.2
  • 18
    • 0018074029 scopus 로고
    • Spinal muscular atrophy in childhood: review of 50 cases
    • Benady S.G. Spinal muscular atrophy in childhood: review of 50 cases. Dev Med Child Neurol 20 (1978) 746-757
    • (1978) Dev Med Child Neurol , vol.20 , pp. 746-757
    • Benady, S.G.1
  • 21
    • 43449122152 scopus 로고    scopus 로고
    • Feeding difficulties and malnutrition in spinal muscular atrophy type II
    • Messina S., Pane M., De Rose P., et al. Feeding difficulties and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord 18 5 (2008) 389-393
    • (2008) Neuromuscul Disord , vol.18 , Issue.5 , pp. 389-393
    • Messina, S.1    Pane, M.2    De Rose, P.3
  • 23
    • 0028904953 scopus 로고
    • Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestion for a modification of existing classifications
    • Zerres K., and Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestion for a modification of existing classifications. Arch Neurol 52 (1995) 518-523
    • (1995) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnik-Schöneborn, S.2
  • 24
    • 0036726945 scopus 로고    scopus 로고
    • Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study
    • Steffensen B.F., Lyager S., Werge B., Rahbek J., and Mattsson E. Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study. Dev Med Child Neurol 44 9 (2002) 623
    • (2002) Dev Med Child Neurol , vol.44 , Issue.9 , pp. 623
    • Steffensen, B.F.1    Lyager, S.2    Werge, B.3    Rahbek, J.4    Mattsson, E.5
  • 26
    • 0036717349 scopus 로고    scopus 로고
    • Outcome measures for pediatric spinal muscular atrophy
    • AmSMART Group
    • Iannaccone S.T., and AmSMART Group. Outcome measures for pediatric spinal muscular atrophy. Arch Neurol 59 (2002) 1445-1450
    • (2002) Arch Neurol , vol.59 , pp. 1445-1450
    • Iannaccone, S.T.1
  • 27
    • 53249098299 scopus 로고    scopus 로고
    • Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops
    • Mercuri E., Mayhew A., Muntoni F., et al. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops. Neuromuscul Disord 18 (2008) 894-903
    • (2008) Neuromuscul Disord , vol.18 , pp. 894-903
    • Mercuri, E.1    Mayhew, A.2    Muntoni, F.3
  • 28
    • 0034213090 scopus 로고    scopus 로고
    • A randomized comparative study of two methods for controlling tendo Achilles contracture in Duchenne muscular dystrophy
    • Hyde S.A., Fløytrup I., Glent S., et al. A randomized comparative study of two methods for controlling tendo Achilles contracture in Duchenne muscular dystrophy. Neuromuscul Disord 10 (2000) 257-263
    • (2000) Neuromuscul Disord , vol.10 , pp. 257-263
    • Hyde, S.A.1    Fløytrup, I.2    Glent, S.3
  • 29
    • 0036203595 scopus 로고    scopus 로고
    • Reliability of the EK scale, a functional test for non-ambulatory persons with Duchenne muscular dystrophy
    • Steffensen B.F., Hyde S., Attermann J., and Mattsson E. Reliability of the EK scale, a functional test for non-ambulatory persons with Duchenne muscular dystrophy. Adv Physiother 4 (2002) 37-47
    • (2002) Adv Physiother , vol.4 , pp. 37-47
    • Steffensen, B.F.1    Hyde, S.2    Attermann, J.3    Mattsson, E.4
  • 30
    • 0019522162 scopus 로고
    • Clinical trial in Duchenne muscular dystrophy: I. The design of the protocol
    • Brooke M.H., Griggs R.C., Mendell J.R., et al. Clinical trial in Duchenne muscular dystrophy: I. The design of the protocol. Muscle Nerve 4 (1981) 186-187
    • (1981) Muscle Nerve , vol.4 , pp. 186-187
    • Brooke, M.H.1    Griggs, R.C.2    Mendell, J.R.3
  • 31
    • 0043092414 scopus 로고    scopus 로고
    • The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation
    • Main M., Kairon H., Mercuri E., and Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 7 (2003) 155-159
    • (2003) Eur J Paediatr Neurol , vol.7 , pp. 155-159
    • Main, M.1    Kairon, H.2    Mercuri, E.3    Muntoni, F.4
  • 32
    • 0041841956 scopus 로고    scopus 로고
    • Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy
    • Steffensen B.F., Hyde S.A., Lyager S., and Mattsson E. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int 6 (2001) 119-134
    • (2001) Physiother Res Int , vol.6 , pp. 119-134
    • Steffensen, B.F.1    Hyde, S.A.2    Lyager, S.3    Mattsson, E.4
  • 34
    • 0026547383 scopus 로고
    • Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne's muscular dystrophy
    • Florence J.M., Pandya S., King W., et al. Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne's muscular dystrophy. Phys Ther 72 (1992) 115-122
    • (1992) Phys Ther , vol.72 , pp. 115-122
    • Florence, J.M.1    Pandya, S.2    King, W.3
  • 35
    • 0019948028 scopus 로고
    • Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy
    • Scott O.M., Hyde S.A., Goddard C., and Dubowitz V. Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy. Muscle Nerve 5 (1982) 291-301
    • (1982) Muscle Nerve , vol.5 , pp. 291-301
    • Scott, O.M.1    Hyde, S.A.2    Goddard, C.3    Dubowitz, V.4
  • 36
    • 0003662642 scopus 로고
    • American Academy of orthopedic surgeons, Edinburgh and London: E&S Livingstone;
    • American Academy of orthopedic surgeons. Joint motion: method of measuring and recording. Edinburgh and London: E&S Livingstone; 1965.
    • (1965) Joint motion: Method of measuring and recording
  • 38
    • 0028206815 scopus 로고
    • Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications
    • Rudnik-Schöneborn S., Röhrig D., Morgan G., Wirth B., and 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 51 (1994) 70-76
    • (1994) Am J Med Genet , vol.51 , pp. 70-76
    • Rudnik-Schöneborn, S.1    Röhrig, D.2    Morgan, G.3    Wirth, B.4    Zerres, K.5
  • 39
    • 34247566138 scopus 로고    scopus 로고
    • The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study
    • Tiziano F.D., Bertini E., Messina S., et al. The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study. Neuromuscul Disord 17 (2007) 400-403
    • (2007) Neuromuscul Disord , vol.17 , pp. 400-403
    • Tiziano, F.D.1    Bertini, E.2    Messina, S.3
  • 40
    • 0035012607 scopus 로고    scopus 로고
    • Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children
    • Escolar D.M., Henricson E.K., Mayhew J., et al. Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children. Muscle Nerve 24 (2001) 787-793
    • (2001) Muscle Nerve , vol.24 , pp. 787-793
    • Escolar, D.M.1    Henricson, E.K.2    Mayhew, J.3
  • 41
    • 0036307964 scopus 로고    scopus 로고
    • Reliability of hand-held dynamometry in spinal muscular atrophy
    • Merlini L., Mazzone E.S., Solari A., and Morandi L. Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve 26 (2002) 64-70
    • (2002) Muscle Nerve , vol.26 , pp. 64-70
    • Merlini, L.1    Mazzone, E.S.2    Solari, A.3    Morandi, L.4
  • 42
    • 0035886619 scopus 로고    scopus 로고
    • A placebo-controlled trial of gabapentin in spinal muscular atrophy
    • SMA Study Group
    • Miller R.G., Moore D.H., Dronsky V., et al., SMA Study Group. A placebo-controlled trial of gabapentin in spinal muscular atrophy. J Neurol Sci 191 (2001) 127-131
    • (2001) J Neurol Sci , vol.191 , pp. 127-131
    • Miller, R.G.1    Moore, D.H.2    Dronsky, V.3
  • 43
    • 0042524580 scopus 로고    scopus 로고
    • Reliability of 4 outcome measures in paediatric spinal muscular atrophy
    • AmSMART group
    • Iannaccone S.T., Hynan L.S., and AmSMART group. Reliability of 4 outcome measures in paediatric spinal muscular atrophy. Arch Neurol 60 (2003) 1130-1136
    • (2003) Arch Neurol , vol.60 , pp. 1130-1136
    • Iannaccone, S.T.1    Hynan, L.S.2
  • 44
    • 4444291534 scopus 로고    scopus 로고
    • Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III
    • Chng S.Y., Wong Y.Q., Hui J.H., et al. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health 39 (2003 Dec) 673-676
    • (2003) J Paediatr Child Health , vol.39 , pp. 673-676
    • Chng, S.Y.1    Wong, Y.Q.2    Hui, J.H.3


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