A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Muscle and Nerve

Volumn 42, Issue 2, 2010, Pages 213-217

  Lamperti, Costanza ^a   Fabbri, Greta ^b   Vercelli, Liliana ^c   D'Amico, Roberto ^b   Frusciante, Roberto ^d   Bonifazi, Emanuela ^b   Fiorillo, Chiara ^e   Borsato, Carlo ^f   Cao, Michelangelo ^f   Servida, Maura ^a   Greco, Francesca ^b   Di Leo, Rita ^g   Volpi, Leda ^h   Manzoli, Claudia ⁱ   Cudia, Paola ^j   Pastorello, Ebe ^f   Ricciardi, Leopoldo ⁱ   Siciliano, Gabriele ^h   Galluzzi, Giuliana ^k   Rodolico, Carmelo ^g   Santoro, Lucio ^e   Tomelleri, Giuliano ^l   Angelini, Corrado ^f   Ricci, Enzo ^d   Palmucci, Laura ^c   Moggio, Maurizio ^a   Tupler, Rossella ^b,m   more..

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g UNIVERSITY OF MESSINA   (Italy)

^h UNIVERSITY OF PISA   (Italy)

ⁱ UNIVERSITY OF CHIETI   (Italy)

^j DEPARTMENT OF NEUROSURGERY   (Italy)

^k IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^l UNIVERSITY OF VERONA   (Italy)

^m UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

more..

Author keywords

Clinical evaluation form; Clinical severity score; Facioscapulohumeral muscular dystrophy; Kappa statistic; Muscle weakness distribution

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL PROTOCOL; DISEASE SEVERITY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCLE WEAKNESS; PRIORITY JOURNAL; RELIABILITY; REPRODUCIBILITY; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; REPRODUCIBILITY OF RESULTS; SEVERITY OF ILLNESS INDEX;

EID: 77955169855     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21671     Document Type: Article

References (18)

1. Padberg GW. Facioscapulohumeral disease. Thesis, Leiden University; 1982.
2. Flanigan KM. Facioscapulohumeral muscular dystrophy and scapuloperoneal disorders. In Engel A, Franzini-Armstrong C, editors. Myology, 3rd ed. Vol. II. New York: McGraw-Hill; 2004. p 1123-1133.
3. 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.
4. 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.
5. 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.]
6. Lunt PW. 44th ENMC International Workshop: Facioscapulohumeral muscular dystrophy: molecular studies, 19-21 July 1996, Naarden, The Netherlands. Neuromuscul Disord 1998;8:126-130.
7. 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.
8. 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. (Pubitemid 24003395)
9. 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. (Pubitemid 29260752)
10. 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. (Pubitemid 37494952)
11. 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.
12. 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. (Pubitemid 44359535)
13. Fleiss JL, Levin B, Paik MC. Statistical methods for rates and proportions, 3rd ed. New York: Wiley; 2003.
14. Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics 1977;33:159-174.
15. 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. (Pubitemid 26183810)
16. 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. (Pubitemid 24067063)
17. 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. (Pubitemid 32995725)
18. 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. (Pubitemid 47222298)