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Erschienen in: Clinical Neuroradiology 4/2016

10.04.2015 | Original Article

Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy

verfasst von: J.U. Regula, MD, L. Jestaedt, MD, F. Jende, A. Bartsch, MD, H.-M. Meinck, MD, M.-A. Weber, MD

Erschienen in: Clinical Neuroradiology | Ausgabe 4/2016

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Abstract

Objective

The objective of this study was to evaluate the clinical usefulness of whole-body magnetic resonance imaging (MRI) in facio-scapulo-humeral muscular dystrophy (FSHD).

Methods

In 20 patients with genetically proven FSHD1, we prospectively assessed muscular involvement and correlated the results of semi-quantitative manual muscle testing and other parameters such as disease duration, creatine kinase (CK) levels and repeat length of the D4Z4 locus with whole-body MRI.

Results

Clinical muscle testing revealed the trapezius, pectoralis and infraspinatus as the most severely affected muscles in the shoulder, and the knee flexors and gluteus medius in the hip girdle. MRI revealed the trapezius and serratus anterior muscles in the shoulder, and the hamstrings and adductor muscles in the hip girdle, as the most severely affected muscle groups. Overall, degrees of fatty degeneration on MRI scans correlated significantly with clinical weakness. Moreover, we could detect clear affection of the trunk muscles. Corresponding to earlier reports, asymmetric involvement was frequent in both clinical examination and MRI scoring. Moreover, MRI revealed inhomogeneous muscle degeneration in a considerable proportion of both, muscles and patients. Both clinical and MRI scores significantly correlated to disease duration, but not to fragment size or CK levels.

Conclusion

Fatty degeneration in whole-body MRI correlates well to clinical muscle testing of the extremities but gives more information on deeper or trunk muscles. It shows structural changes in muscular disorders and may become an excellent tool for assessment of muscle involvement and follow-up studies.
Literatur
1.
Zurück zum Zitat Emery AEH. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord. 1991;1:19–29.CrossRefPubMed Emery AEH. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord. 1991;1:19–29.CrossRefPubMed
2.
Zurück zum Zitat Sacconi S, Salviati L, Desnuelle C. Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2014;1852(4):607–14.CrossRefPubMed Sacconi S, Salviati L, Desnuelle C. Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2014;1852(4):607–14.CrossRefPubMed
3.
4.
Zurück zum Zitat Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of the fascioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet. 1990;336:651–3.CrossRefPubMed Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of the fascioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet. 1990;336:651–3.CrossRefPubMed
5.
Zurück zum Zitat Van der Maarel SM, Tawil R, Tapscott SJ. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med. 2011;17(5):252–8.CrossRefPubMedPubMedCentral Van der Maarel SM, Tawil R, Tapscott SJ. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med. 2011;17(5):252–8.CrossRefPubMedPubMedCentral
6.
Zurück zum Zitat Kan HE, Janssen BH, Voet NBM. Fascioscapulohumeral dystrophy. In: Wattjes MP, Fischer D, editors. Neuromuscular imaging. Springer; 2013. pp. 295–304. Kan HE, Janssen BH, Voet NBM. Fascioscapulohumeral dystrophy. In: Wattjes MP, Fischer D, editors. Neuromuscular imaging. Springer; 2013. pp. 295–304.
7.
Zurück zum Zitat Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Correlation between fragment size at D4F104S1 and age of 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;4:951–8.CrossRefPubMed Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Correlation between fragment size at D4F104S1 and age of 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;4:951–8.CrossRefPubMed
8.
Zurück zum Zitat Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol. 1996;39(6):744–8.CrossRefPubMed Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol. 1996;39(6):744–8.CrossRefPubMed
9.
Zurück zum Zitat Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L. 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.CrossRefPubMed Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L. 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.CrossRefPubMed
10.
Zurück zum Zitat Padberg GW, Lunt PW, Koch M, Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1991;1(4):231–4.CrossRefPubMed Padberg GW, Lunt PW, Koch M, Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1991;1(4):231–4.CrossRefPubMed
11.
Zurück zum Zitat Dahlqvist JR, Vissing CR, Thomsen C, Vissing J. Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy. Neurology. 2014;83(13):1178–83.CrossRefPubMed Dahlqvist JR, Vissing CR, Thomsen C, Vissing J. Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy. Neurology. 2014;83(13):1178–83.CrossRefPubMed
12.
Zurück zum Zitat Sacconi S, Desnuelle C. Facioscapulohumeral muscular dystrophy type 2. Rev Neurol (Paris). 2013;169(8–9):564–72.CrossRef Sacconi S, Desnuelle C. Facioscapulohumeral muscular dystrophy type 2. Rev Neurol (Paris). 2013;169(8–9):564–72.CrossRef
13.
Zurück zum Zitat Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC. Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol. 2010;257:1108–18.CrossRefPubMed Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC. Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol. 2010;257:1108–18.CrossRefPubMed
14.
Zurück zum Zitat Rijken NH, van Engelen BG, de Rooy JW, Geurts AC, Weerdesteyn V. Trunk muscle involvement is most critical for the loss of balance control in patients with facioscapulohumeral muscular dystrophy. Clin Biomech (Bristol, Avon). 2014;29(8):855–60.CrossRef Rijken NH, van Engelen BG, de Rooy JW, Geurts AC, Weerdesteyn V. Trunk muscle involvement is most critical for the loss of balance control in patients with facioscapulohumeral muscular dystrophy. Clin Biomech (Bristol, Avon). 2014;29(8):855–60.CrossRef
15.
Zurück zum Zitat Awerbuch GI, Nigro MA. Beevor’s sign in facioscapulohumeral muscular dystrophy. Arch Neurol. 1990;47:1208–9.CrossRefPubMed Awerbuch GI, Nigro MA. Beevor’s sign in facioscapulohumeral muscular dystrophy. Arch Neurol. 1990;47:1208–9.CrossRefPubMed
16.
Zurück zum Zitat Olsen DB, Gideon P, Jeppesen TD, Vissing J. Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. J Neurol. 2006;253:1437–41.CrossRefPubMed Olsen DB, Gideon P, Jeppesen TD, Vissing J. Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. J Neurol. 2006;253:1437–41.CrossRefPubMed
17.
Zurück zum Zitat Weber MA, Essig M, Kauczor HU. Radiologische Diagnostik von Muskelerkrankungen. RöFo. 2007;179:712–20.PubMed Weber MA, Essig M, Kauczor HU. Radiologische Diagnostik von Muskelerkrankungen. RöFo. 2007;179:712–20.PubMed
19.
Zurück zum Zitat Janssen BH, Voet NBM, Nabuurs CI, Kan HE, de Rooy JW, Geurts AC, Padberg GW, van Engelen BG, Heerschap A. Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration. PLoS One. 2014;9(1):e85416.CrossRefPubMedPubMedCentral Janssen BH, Voet NBM, Nabuurs CI, Kan HE, de Rooy JW, Geurts AC, Padberg GW, van Engelen BG, Heerschap A. Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration. PLoS One. 2014;9(1):e85416.CrossRefPubMedPubMedCentral
20.
Zurück zum Zitat Friedman SD, Poliachik SL, Otto RK, Carter GT, Budech CB, Bird TD, Miller DG, Shaw DW. Longitudinal features of STIR bright signal in FSHD. Muscle Nerve. 2014;49(2):257–60.CrossRefPubMed Friedman SD, Poliachik SL, Otto RK, Carter GT, Budech CB, Bird TD, Miller DG, Shaw DW. Longitudinal features of STIR bright signal in FSHD. Muscle Nerve. 2014;49(2):257–60.CrossRefPubMed
21.
Zurück zum Zitat Weber MA, Jappe U, Essig M, Krix M, Ittrich C, Huttner HB, Meyding-Lamadé U, Hartmann M, Kauczor HU, Delorme S. Contrast-enhanced ultrasound in dermatomyositis and polymyositis. J Neurol. 2006;253:1625–32.CrossRefPubMed Weber MA, Jappe U, Essig M, Krix M, Ittrich C, Huttner HB, Meyding-Lamadé U, Hartmann M, Kauczor HU, Delorme S. Contrast-enhanced ultrasound in dermatomyositis and polymyositis. J Neurol. 2006;253:1625–32.CrossRefPubMed
22.
Zurück zum Zitat Kan HE, Scheenen TWJ, Wohlgemuth M, Klomp DW, van Loosbroek-Wagenmans I, Padberg GW, Heerschap A.Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2009;19(5):357–62.CrossRefPubMed Kan HE, Scheenen TWJ, Wohlgemuth M, Klomp DW, van Loosbroek-Wagenmans I, Padberg GW, Heerschap A.Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2009;19(5):357–62.CrossRefPubMed
23.
Zurück zum Zitat Compston A. Aids to the investigation of peripheral nerve injuries. Medical Research Council: Nerve Injuries Research Committee. His Majesty’s Stationery Office: 1942; pp. 48 (iii) and 74 figures and 7 diagrams; with aids to the examination of the peripheral nervous system. By Michael O’Brien for the Guarantors of Brain. Saunders Elsevier: 2010; pp. [8] 64 and 94 Figures. Brain. 2010;133:2838–44.CrossRefPubMed Compston A. Aids to the investigation of peripheral nerve injuries. Medical Research Council: Nerve Injuries Research Committee. His Majesty’s Stationery Office: 1942; pp. 48 (iii) and 74 figures and 7 diagrams; with aids to the examination of the peripheral nervous system. By Michael O’Brien for the Guarantors of Brain. Saunders Elsevier: 2010; pp. [8] 64 and 94 Figures. Brain. 2010;133:2838–44.CrossRefPubMed
24.
Zurück zum Zitat May DA, Disler DG, Jones EA, Balkissoon AA, Manaster BJ. Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls, and pitfalls. Radiographics. 2000;20:S295–315.CrossRefPubMed May DA, Disler DG, Jones EA, Balkissoon AA, Manaster BJ. Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls, and pitfalls. Radiographics. 2000;20:S295–315.CrossRefPubMed
26.
Zurück zum Zitat Schäbitz WR, Glatz K, Schuhan C, Sommer C, Berger C, Schwaninger M, Hartmann M, Hilmar Goebel H, Meinck HM. Severe forward flexion of the trunk in Parkinson’s disease: focal myopathy of the paraspinal muscles mimicking camptocormia. Mov Disord. 2003;18(4):408–14.CrossRefPubMed Schäbitz WR, Glatz K, Schuhan C, Sommer C, Berger C, Schwaninger M, Hartmann M, Hilmar Goebel H, Meinck HM. Severe forward flexion of the trunk in Parkinson’s disease: focal myopathy of the paraspinal muscles mimicking camptocormia. Mov Disord. 2003;18(4):408–14.CrossRefPubMed
27.
Zurück zum Zitat Tasca G, Pescatori M, Monforte M, Mirabella M, Iannaccone E, Frusciante R, Cubeddu T, Laschena F, Ottaviani P, Ricci E. Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. PLoS One. 2012;7(6):e38779.CrossRefPubMedPubMedCentral Tasca G, Pescatori M, Monforte M, Mirabella M, Iannaccone E, Frusciante R, Cubeddu T, Laschena F, Ottaviani P, Ricci E. Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. PLoS One. 2012;7(6):e38779.CrossRefPubMedPubMedCentral
28.
Zurück zum Zitat Quijano-Roy S, Avila-Smirnow D, Carlier RY. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. WB-MRI muscle study group. Neuromuscul Disord. 2012;22(Suppl. 2):S68–84.CrossRefPubMed Quijano-Roy S, Avila-Smirnow D, Carlier RY. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. WB-MRI muscle study group. Neuromuscul Disord. 2012;22(Suppl. 2):S68–84.CrossRefPubMed
29.
Zurück zum Zitat Schramm N, Born C, Weckbach S, Reilich P, Walter MC, Reiser MF. Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. Eur Radiol. 2008;18(12):2922–36.CrossRefPubMed Schramm N, Born C, Weckbach S, Reilich P, Walter MC, Reiser MF. Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. Eur Radiol. 2008;18(12):2922–36.CrossRefPubMed
30.
Zurück zum Zitat Kornblum C, Lutterbey GG, Czermin B, Reimann J, von Kleist-Retzow JC, Jurkat-Rott K, Wattjes MP. Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita. Acta Neurol Scand. 2010;121(2):131–5.CrossRefPubMed Kornblum C, Lutterbey GG, Czermin B, Reimann J, von Kleist-Retzow JC, Jurkat-Rott K, Wattjes MP. Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita. Acta Neurol Scand. 2010;121(2):131–5.CrossRefPubMed
31.
Zurück zum Zitat Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. Acta Neurol Scand. 2009;120(2):111–8.CrossRefPubMed Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. Acta Neurol Scand. 2009;120(2):111–8.CrossRefPubMed
32.
Zurück zum Zitat Kottlors M, Kress W, Meng G, Glocker FX. Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome. Muscle Nerve. 2010;42(2):273–5.CrossRefPubMed Kottlors M, Kress W, Meng G, Glocker FX. Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome. Muscle Nerve. 2010;42(2):273–5.CrossRefPubMed
33.
Zurück zum Zitat Jordan B, Eger K, Koesling S, Zierz S. Camptocormia phenotype of FSHD: a clinical and MRI study on six patients. J Neurol. 2011;258(5):866–73.CrossRefPubMed Jordan B, Eger K, Koesling S, Zierz S. Camptocormia phenotype of FSHD: a clinical and MRI study on six patients. J Neurol. 2011;258(5):866–73.CrossRefPubMed
34.
Zurück zum Zitat Tasca G, Monforte M, Iannaccone E, Laschena F, Ottaviani P, Leoncini E, Boccia S, Galluzzi G, Pelliccioni M, Masciullo M, Frusciante R, Mercuri E, Ricci E. Upper girdle imaging in facioscapulohumeral muscular dystrophy. PLoS One. 2014;9(6):e100292.CrossRefPubMedPubMedCentral Tasca G, Monforte M, Iannaccone E, Laschena F, Ottaviani P, Leoncini E, Boccia S, Galluzzi G, Pelliccioni M, Masciullo M, Frusciante R, Mercuri E, Ricci E. Upper girdle imaging in facioscapulohumeral muscular dystrophy. PLoS One. 2014;9(6):e100292.CrossRefPubMedPubMedCentral
35.
Zurück zum Zitat Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006;34(1):1–15.CrossRefPubMed Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006;34(1):1–15.CrossRefPubMed
Metadaten
Titel
Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy
verfasst von
J.U. Regula, MD
L. Jestaedt, MD
F. Jende
A. Bartsch, MD
H.-M. Meinck, MD
M.-A. Weber, MD
Publikationsdatum
10.04.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
Clinical Neuroradiology / Ausgabe 4/2016
Print ISSN: 1869-1439
Elektronische ISSN: 1869-1447
DOI
https://doi.org/10.1007/s00062-015-0386-y

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