A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score
To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were re...
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| Published in | Muscle & nerve Vol. 42; no. 2; pp. 213 - 217 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken
Wiley Subscription Services, Inc., A Wiley Company
01.08.2010
Wiley Wiley Subscription Services, Inc |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0148-639X 1097-4598 1097-4598 |
| DOI | 10.1002/mus.21671 |
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| Abstract | To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patient was evaluated by at least five neurologists, and an FSHD severity score was given by each examiner. The degree of agreement among clinicians' evaluations was measured by kappa‐statistics. Nineteen subjects received a score between 0 and 1, 9 had a score between 2 and 4, 20 received a score between 5 and 10, and 8 had a score between 11 and 15. Of the 13 subjects with D4Z4 alleles within the normal range (ranging from 10 to 150 repeats), 12 obtained a score of 0 and only 1 had a score of 1. Kappa‐statistics showed a very high concordance for all muscle groups. We developed a simple, reliable, easily used tool to define the clinical expression of FSHD. Longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use. Muscle Nerve, 2010 |
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| AbstractList | To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patient was evaluated by at least five neurologists, and an FSHD severity score was given by each examiner. The degree of agreement among clinicians' evaluations was measured by kappa‐statistics. Nineteen subjects received a score between 0 and 1, 9 had a score between 2 and 4, 20 received a score between 5 and 10, and 8 had a score between 11 and 15. Of the 13 subjects with D4Z4 alleles within the normal range (ranging from 10 to 150 repeats), 12 obtained a score of 0 and only 1 had a score of 1. Kappa‐statistics showed a very high concordance for all muscle groups. We developed a simple, reliable, easily used tool to define the clinical expression of FSHD. Longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use. Muscle Nerve, 2010 To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patient was evaluated by at least five neurologists, and an FSHD severity score was given by each examiner. The degree of agreement among clinicians' evaluations was measured by kappa-statistics. Nineteen subjects received a score between 0 and 1, 9 had a score between 2 and 4, 20 received a score between 5 and 10, and 8 had a score between 11 and 15. Of the 13 subjects with D4Z4 alleles within the normal range (ranging from 10 to 150 repeats), 12 obtained a score of 0 and only 1 had a score of 1. Kappa-statistics showed a very high concordance for all muscle groups. We developed a simple, reliable, easily used tool to define the clinical expression of FSHD. Longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use. To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patient was evaluated by at least five neurologists, and an FSHD severity score was given by each examiner. The degree of agreement among clinicians' evaluations was measured by kappa-statistics. Nineteen subjects received a score between 0 and 1, 9 had a score between 2 and 4, 20 received a score between 5 and 10, and 8 had a score between 11 and 15. Of the 13 subjects with D4Z4 alleles within the normal range (ranging from 10 to 150 repeats), 12 obtained a score of 0 and only 1 had a score of 1. Kappa-statistics showed a very high concordance for all muscle groups. We developed a simple, reliable, easily used tool to define the clinical expression of FSHD. Longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use.To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patient was evaluated by at least five neurologists, and an FSHD severity score was given by each examiner. The degree of agreement among clinicians' evaluations was measured by kappa-statistics. Nineteen subjects received a score between 0 and 1, 9 had a score between 2 and 4, 20 received a score between 5 and 10, and 8 had a score between 11 and 15. Of the 13 subjects with D4Z4 alleles within the normal range (ranging from 10 to 150 repeats), 12 obtained a score of 0 and only 1 had a score of 1. Kappa-statistics showed a very high concordance for all muscle groups. We developed a simple, reliable, easily used tool to define the clinical expression of FSHD. Longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use. To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patient was evaluated by at least five neurologists, and an FSHD severity score was given by each examiner. The degree of agreement among clinicians' evaluations was measured by kappa-statistics. Nineteen subjects received a score between 0 and 1, 9 had a score between 2 and 4, 20 received a score between 5 and 10, and 8 had a score between 11 and 15. Of the 13 subjects with D4Z4 alleles within the normal range (ranging from 10 to 150 repeats), 12 obtained a score of 0 and only 1 had a score of 1. Kappa-statistics showed a very high concordance for all muscle groups. We developed a simple, reliable, easily used tool to define the clinical expression of FSHD. Longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use. Muscle Nerve, 2010 [PUBLICATION ABSTRACT] |
| Author | D'Amico, Roberto Vercelli, Liliana Angelini, Corrado Frusciante, Roberto Fabbri, Greta Borsato, Carlo Volpi, Leda Cudia, Paola Tupler, Rossella Di Leo, Rita Ricci, Enzo Bonifazi, Emanuela Manzoli, Claudia Santoro, Lucio Moggio, Maurizio Lamperti, Costanza Ricciardi, Leopoldo Servida, Maura Siciliano, Gabriele Galluzzi, Giuliana Pastorello, Ebe Tomelleri, Giuliano Fiorillo, Chiara Cao, Michelangelo Rodolico, Carmelo Greco, Francesca Palmucci, Laura |
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| Keywords | Human Nervous system diseases Neuromuscular diseases muscle weakness distribution Muscular dystrophy Genetic disease Kappa-statistic Sensitivity clinical severity score Reproducibility facioscapulohumeral muscular dystrophy Weakness Muscle clinical evaluation form |
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| References | Wijmenga C, Sandkuijl LA, Moerer P, van der Boorn N, Bodrug SE, Ray PN, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am J Hum Genet 1992; 51: 411-415. Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord 2004; 14: 33-38. van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993; 2: 2037-2042. Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35 facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995; 4: 951-958. [Erratum: Hum Mol Genet 1995;4:1243-1244.] Fleiss JL, Levin B, Paik MC. Statistical methods for rates and proportions, 3rd ed. New York: Wiley; 2003. Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve 1981; 4: 186-197. Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics 1977; 33: 159-174. Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996; 39: 744-748. Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maraschio P, et al. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by FSHD with different clinical expression. J Med Genet 1998; 35: 778-783. Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, et al. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol 1999; 45: 751-7. van der Kooi EL, Kalkman JS, Lindeman E, Hendriks JC, van Engelen BG, Bleijenberg G, et al. Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. J Neurol 2007; 254: 931-940. Lunt PW. 44th ENMC International Workshop: Facioscapulohumeral muscular dystrophy: molecular studies, 19-21 July 1996, Naarden, The Netherlands. Neuromuscul Disord 1998; 8: 126-130. Kissel JT, McDermott MP, Mendell JR, King WM, Pandya S, Griggs RC, et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology 2001; 57: 1434-1440. Trevisan CP, Pastorello E, Armani M, Angelini C, Nante G, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol 2006; 56: 1-5. Brouwer OF, Padberg GW, van der Ploeg RJ, Ruys CJ, Brand R. The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy. Brain 1992; 115: 1587-1598. Personius KE, Pandya S, King WM, Tawil R, McDermott MP. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. Phys Ther 1994; 74: 253-263. 2004; II 1996; 39 2006; 56 2004; 14 2007; 254 1992; 115 1981; 4 1999; 45 1977; 33 1982 2003 1995; 4 2001; 57 1993; 2 1994; 74 1992; 51 1998; 35 1998; 8 e_1_2_7_5_2 e_1_2_7_4_2 e_1_2_7_2_2 e_1_2_7_9_2 e_1_2_7_7_2 e_1_2_7_6_2 e_1_2_7_19_2 e_1_2_7_18_2 e_1_2_7_17_2 e_1_2_7_16_2 Wijmenga C (e_1_2_7_8_2) 1992; 51 e_1_2_7_15_2 e_1_2_7_14_2 e_1_2_7_13_2 e_1_2_7_12_2 e_1_2_7_11_2 e_1_2_7_10_2 Flanigan KM (e_1_2_7_3_2) 2004 |
| References_xml | – reference: Trevisan CP, Pastorello E, Armani M, Angelini C, Nante G, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol 2006; 56: 1-5. – reference: Fleiss JL, Levin B, Paik MC. Statistical methods for rates and proportions, 3rd ed. New York: Wiley; 2003. – reference: Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996; 39: 744-748. – reference: Personius KE, Pandya S, King WM, Tawil R, McDermott MP. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. Phys Ther 1994; 74: 253-263. – reference: Lunt PW. 44th ENMC International Workshop: Facioscapulohumeral muscular dystrophy: molecular studies, 19-21 July 1996, Naarden, The Netherlands. Neuromuscul Disord 1998; 8: 126-130. – reference: Wijmenga C, Sandkuijl LA, Moerer P, van der Boorn N, Bodrug SE, Ray PN, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am J Hum Genet 1992; 51: 411-415. – reference: van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993; 2: 2037-2042. – reference: Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maraschio P, et al. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by FSHD with different clinical expression. J Med Genet 1998; 35: 778-783. – reference: Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics 1977; 33: 159-174. – reference: Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35 facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995; 4: 951-958. [Erratum: Hum Mol Genet 1995;4:1243-1244.] – reference: Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, et al. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol 1999; 45: 751-7. – reference: Brouwer OF, Padberg GW, van der Ploeg RJ, Ruys CJ, Brand R. The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy. Brain 1992; 115: 1587-1598. – reference: Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord 2004; 14: 33-38. – reference: Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve 1981; 4: 186-197. – reference: van der Kooi EL, Kalkman JS, Lindeman E, Hendriks JC, van Engelen BG, Bleijenberg G, et al. Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. J Neurol 2007; 254: 931-940. – reference: Kissel JT, McDermott MP, Mendell JR, King WM, Pandya S, Griggs RC, et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology 2001; 57: 1434-1440. – volume: 51 start-page: 411 year: 1992 end-page: 415 article-title: Genetic linkage map of facioscapulohumeral muscular dystrophy and muscular dystrophy and five polymorphic loci on chromosome 4q35‐qter publication-title: Am J Hum Genet – volume: II start-page: 1123 year: 2004 end-page: 1133 – volume: 8 start-page: 126 year: 1998 end-page: 130 article-title: 44th ENMC International Workshop: Facioscapulohumeral muscular dystrophy: molecular studies, 19–21 July 1996, Naarden, The Netherlands publication-title: Neuromuscul Disord – year: 1982 – volume: 115 start-page: 1587 year: 1992 end-page: 1598 article-title: The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy publication-title: Brain – volume: 2 start-page: 2037 year: 1993 end-page: 2042 article-title: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit publication-title: Hum Mol Genet – volume: 254 start-page: 931 year: 2007 end-page: 940 article-title: Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy publication-title: J Neurol – volume: 4 start-page: 186 year: 1981 end-page: 197 article-title: Clinical trial in Duchenne dystrophy. I. The design of the protocol publication-title: Muscle Nerve – volume: 74 start-page: 253 year: 1994 end-page: 263 article-title: Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements publication-title: Phys Ther – year: 2003 – volume: 4 start-page: 951 year: 1995 end-page: 958 article-title: Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35 facioscapulohumeral muscular dystrophy (FSHD) publication-title: Hum Mol Genet – volume: 45 start-page: 751 year: 1999 end-page: 7 article-title: Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype publication-title: Ann Neurol – volume: 57 start-page: 1434 year: 2001 end-page: 1440 article-title: Randomized, double‐blind, placebo‐controlled trial of albuterol in facioscapulohumeral dystrophy publication-title: Neurology – volume: 33 start-page: 159 year: 1977 end-page: 174 article-title: The measurement of observer agreement for categorical data publication-title: Biometrics – volume: 35 start-page: 778 year: 1998 end-page: 783 article-title: Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by FSHD with different clinical expression publication-title: J Med Genet – volume: 39 start-page: 744 year: 1996 end-page: 748 article-title: Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy publication-title: Ann Neurol – volume: 56 start-page: 1 year: 2006 end-page: 5 article-title: Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia publication-title: Eur Neurol – volume: 14 start-page: 33 year: 2004 end-page: 38 article-title: Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD) publication-title: Neuromuscul Disord – ident: e_1_2_7_2_2 – ident: e_1_2_7_15_2 doi: 10.2307/2529310 – ident: e_1_2_7_19_2 doi: 10.1007/s00415-006-0432-4 – ident: e_1_2_7_7_2 doi: 10.1016/S0960-8966(98)00012-1 – volume: 51 start-page: 411 year: 1992 ident: e_1_2_7_8_2 article-title: Genetic linkage map of facioscapulohumeral muscular dystrophy and muscular dystrophy and five polymorphic loci on chromosome 4q35‐qter publication-title: Am J Hum Genet – ident: e_1_2_7_9_2 doi: 10.1093/hmg/2.12.2037 – ident: e_1_2_7_12_2 doi: 10.1002/mus.880040304 – ident: e_1_2_7_10_2 doi: 10.1002/1531-8249(199906)45:6<751::AID-ANA9>3.0.CO;2-M – ident: e_1_2_7_14_2 doi: 10.1002/0471445428 – ident: e_1_2_7_18_2 doi: 10.1212/WNL.57.8.1434 – ident: e_1_2_7_16_2 doi: 10.1002/ana.410390610 – ident: e_1_2_7_11_2 doi: 10.1016/j.nmd.2003.07.001 – ident: e_1_2_7_5_2 doi: 10.1136/jmg.35.9.778 – ident: e_1_2_7_4_2 doi: 10.1093/brain/115.5.1587 – ident: e_1_2_7_17_2 doi: 10.1093/ptj/74.3.253 – start-page: 1123 year: 2004 ident: e_1_2_7_3_2 – ident: e_1_2_7_6_2 doi: 10.1093/hmg/4.5.951 – ident: e_1_2_7_13_2 doi: 10.1159/000094248 |
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| Snippet | To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by... |
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| SubjectTerms | Adolescent Adult Aged Aged, 80 and over Biological and medical sciences clinical evaluation form clinical severity score Diseases of striated muscles. Neuromuscular diseases facioscapulohumeral muscular dystrophy Female Humans Kappa-statistic Male Medical sciences Middle Aged Muscle Weakness - diagnosis Muscle Weakness - genetics Muscle Weakness - physiopathology muscle weakness distribution Muscular dystrophy Muscular Dystrophy, Facioscapulohumeral - diagnosis Muscular Dystrophy, Facioscapulohumeral - physiopathology Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Reproducibility of Results Severity of Illness Index |
| Title | A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score |
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