Skip to main content
Erschienen in: Journal of Neurology 8/2023

02.05.2023 | Original Communication

Muscle MRI patterns for limb girdle muscle dystrophies: systematic review

verfasst von: Issa Alawneh, Ana Stosic, Hernan Gonorazky

Erschienen in: Journal of Neurology | Ausgabe 8/2023

Einloggen, um Zugang zu erhalten

Abstract

Limb girdle muscle dystrophies (LGMDs) are a group of inherited neuromuscular disorders comprising more than 20 genes. There have been increasing efforts to characterize this group with Muscle MRI. However, due to the complexity and similarities, the interpretation of the MRI patterns is usually done by experts in the field. Here, we proposed a step-by-step image interpretation of Muscle MRI in LGDM by evaluating the variability of muscle pattern involvement reported in the literature. A systematic review with an open start date to November 2022 was conducted to describe all LGMDs’ muscle MRI patterns. Eighty-eight studies were included in the final review. Data were found to describe muscle MRI patterns for 15 out of 17 LGMDs types. Although the diagnosis of LGMDs is challenging despite the advanced genetic testing and other diagnostic modalities, muscle MRI is shown to help in the diagnosis of LGMDs. To further increase the yield for muscle MRI in the neuromuscular field, larger cohorts of patients need to be conducted.
Literatur
1.
2.
Zurück zum Zitat Van De Vlekkert J et al (2015) Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy. Muscle Nerve 51(2):253–258CrossRefPubMed Van De Vlekkert J et al (2015) Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy. Muscle Nerve 51(2):253–258CrossRefPubMed
3.
4.
5.
Zurück zum Zitat Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S et al (2002) Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 12(7–8):631–638CrossRefPubMed Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S et al (2002) Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 12(7–8):631–638CrossRefPubMed
6.
Zurück zum Zitat Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F (2005) Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 15(2):164–171. https://doi.org/10.1016/j.nmd.2004.10.008. (Epub 2004 Nov 26)CrossRefPubMed Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F (2005) Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 15(2):164–171. https://​doi.​org/​10.​1016/​j.​nmd.​2004.​10.​008. (Epub 2004 Nov 26)CrossRefPubMed
9.
Zurück zum Zitat Stramare R, Beltrame V, Dal Borgo R, Gallimberti L, Frigo AC, Pegoraro E, Angelini C, Rubaltelli L, Feltrin GP (2010) MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med 115(4):585–599. https://doi.org/10.1007/s11547-010-0531-2. (English, Italian; Epub 2010 Feb 22)CrossRefPubMed Stramare R, Beltrame V, Dal Borgo R, Gallimberti L, Frigo AC, Pegoraro E, Angelini C, Rubaltelli L, Feltrin GP (2010) MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med 115(4):585–599. https://​doi.​org/​10.​1007/​s11547-010-0531-2. (English, Italian; Epub 2010 Feb 22)CrossRefPubMed
10.
Zurück zum Zitat Arrigoni F, De Luca A, Velardo D, Magri F, Gandossini S, Russo A, Froeling M, Bertoldo A, Leemans A, Bresolin N, D’angelo G (2018) Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B. Muscle Nerve 58(4):550–558. https://doi.org/10.1002/mus.26189. (Epub 2018 Aug 22)CrossRefPubMed Arrigoni F, De Luca A, Velardo D, Magri F, Gandossini S, Russo A, Froeling M, Bertoldo A, Leemans A, Bresolin N, D’angelo G (2018) Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B. Muscle Nerve 58(4):550–558. https://​doi.​org/​10.​1002/​mus.​26189. (Epub 2018 Aug 22)CrossRefPubMed
16.
Zurück zum Zitat Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY (2020) European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). J Neurol 267(1):45–56. https://doi.org/10.1007/s00415-019-09539-y. (Epub 2019 Sep 25)CrossRefPubMed Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY (2020) European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). J Neurol 267(1):45–56. https://​doi.​org/​10.​1007/​s00415-019-09539-y. (Epub 2019 Sep 25)CrossRefPubMed
18.
Zurück zum Zitat Feng X, Luo S, Li J, Yue D, Xi J, Zhu W, Gao X, Guan X, Lu J, Liang Z, Zhao C (2018) Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. Muscle Nerve 58(4):536–541. https://doi.org/10.1002/mus.26169. (Epub 2018 Sep 3)CrossRefPubMed Feng X, Luo S, Li J, Yue D, Xi J, Zhu W, Gao X, Guan X, Lu J, Liang Z, Zhao C (2018) Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. Muscle Nerve 58(4):536–541. https://​doi.​org/​10.​1002/​mus.​26169. (Epub 2018 Sep 3)CrossRefPubMed
19.
Zurück zum Zitat Peric S, Stevanovic J, Johnson K, Kosac A, Peric M, Brankovic M, Marjanovic A, Jankovic M, Banko B, Milenkovic S, Durdic M, Bozovic I, Glumac JN, Lavrnic D, Maksimovic R, Milic-Rasic V, Rakocevic-Stojanovic V (2019) Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia. Acta Myol 38(3):163–171PubMedPubMedCentral Peric S, Stevanovic J, Johnson K, Kosac A, Peric M, Brankovic M, Marjanovic A, Jankovic M, Banko B, Milenkovic S, Durdic M, Bozovic I, Glumac JN, Lavrnic D, Maksimovic R, Milic-Rasic V, Rakocevic-Stojanovic V (2019) Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia. Acta Myol 38(3):163–171PubMedPubMedCentral
21.
Zurück zum Zitat Schlaeger S, Sollmann N, Zoffl A, Becherucci EA, Weidlich D, Kottmaier E, Riederer I, Greve T, Montagnese F, Deschauer M, Schoser B, Zimmer C, Karampinos DC, Kirschke JS, Baum T (2021) Quantitative muscle MRI in patients with neuromuscular diseases-association of muscle proton density fat fraction with semi-quantitative grading of fatty infiltration and muscle strength at the thigh region. Diagnostics (Basel) 11(6):1056. https://doi.org/10.3390/diagnostics11061056CrossRefPubMed Schlaeger S, Sollmann N, Zoffl A, Becherucci EA, Weidlich D, Kottmaier E, Riederer I, Greve T, Montagnese F, Deschauer M, Schoser B, Zimmer C, Karampinos DC, Kirschke JS, Baum T (2021) Quantitative muscle MRI in patients with neuromuscular diseases-association of muscle proton density fat fraction with semi-quantitative grading of fatty infiltration and muscle strength at the thigh region. Diagnostics (Basel) 11(6):1056. https://​doi.​org/​10.​3390/​diagnostics11061​056CrossRefPubMed
22.
Zurück zum Zitat Aivazoglou LU, Guimarães JB, Costa MAF, Aihara AY, Cardoso FN, Pinto WBVR, de Souza PVS, da Silva AMS, Zanoteli E, Oliveira ASB, Carvalho AAS, Fernandes ADRC (2022) Whole-body MRI in limb girdle muscular dystrophy type R1/2A: correlation with clinical scores. Muscle Nerve 66(4):471–478. https://doi.org/10.1002/mus.27686. (Epub 2022 Aug 10)CrossRefPubMed Aivazoglou LU, Guimarães JB, Costa MAF, Aihara AY, Cardoso FN, Pinto WBVR, de Souza PVS, da Silva AMS, Zanoteli E, Oliveira ASB, Carvalho AAS, Fernandes ADRC (2022) Whole-body MRI in limb girdle muscular dystrophy type R1/2A: correlation with clinical scores. Muscle Nerve 66(4):471–478. https://​doi.​org/​10.​1002/​mus.​27686. (Epub 2022 Aug 10)CrossRefPubMed
29.
Zurück zum Zitat Diaz-Manera J, Fernandez-Torron R, Lauger JL, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V, Jain COS Consortium (2018) Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. J Neurol Neurosurg Psychiatry 89(10):1071–1081. https://doi.org/10.1136/jnnp-2017-317488CrossRefPubMed Diaz-Manera J, Fernandez-Torron R, Lauger JL, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V, Jain COS Consortium (2018) Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. J Neurol Neurosurg Psychiatry 89(10):1071–1081. https://​doi.​org/​10.​1136/​jnnp-2017-317488CrossRefPubMed
31.
Zurück zum Zitat Reyngoudt H, Smith FE, Caldas de Almeida Araújo E, Wilson I, Fernández-Torrón R, James MK, Moore UR, Díaz-Manera J, Marty B, Azzabou N, Gordish H, Rufibach L, Hodgson T, Wallace D, Ward L, Boisserie JM, Le Louër J, Hilsden H, Sutherland H, Canal A, Hogrel JY, Jacobs M, Stojkovic T, Bushby K, Mayhew A, Jain Clinical Outcome Study for Dysferlinopathy consortium, Straub V, Carlier PG, Blamire AM (2022) Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. J Cachexia Sarcopenia Muscle 13(3):1850–1863. https://doi.org/10.1002/jcsm.12987. (Epub 2022 Apr 3)CrossRefPubMedPubMedCentral Reyngoudt H, Smith FE, Caldas de Almeida Araújo E, Wilson I, Fernández-Torrón R, James MK, Moore UR, Díaz-Manera J, Marty B, Azzabou N, Gordish H, Rufibach L, Hodgson T, Wallace D, Ward L, Boisserie JM, Le Louër J, Hilsden H, Sutherland H, Canal A, Hogrel JY, Jacobs M, Stojkovic T, Bushby K, Mayhew A, Jain Clinical Outcome Study for Dysferlinopathy consortium, Straub V, Carlier PG, Blamire AM (2022) Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. J Cachexia Sarcopenia Muscle 13(3):1850–1863. https://​doi.​org/​10.​1002/​jcsm.​12987. (Epub 2022 Apr 3)CrossRefPubMedPubMedCentral
33.
Zurück zum Zitat Xie Z, Xiao J, Zheng Y, Wang Z, Yuan Y (2018) Magnetic resonance imaging findings in the muscle tissue of patients with limb girdle muscular dystrophy type 2I harboring the founder mutation c.545A>G in the FKRP gene. Biomed Res Int 29(2018):3710814. https://doi.org/10.1155/2018/3710814CrossRef Xie Z, Xiao J, Zheng Y, Wang Z, Yuan Y (2018) Magnetic resonance imaging findings in the muscle tissue of patients with limb girdle muscular dystrophy type 2I harboring the founder mutation c.545A>G in the FKRP gene. Biomed Res Int 29(2018):3710814. https://​doi.​org/​10.​1155/​2018/​3710814CrossRef
35.
36.
Zurück zum Zitat Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O’Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF (2015) Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol 72(12):1424–1432. https://doi.org/10.1001/jamaneurol.2015.2274CrossRefPubMed Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O’Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF (2015) Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol 72(12):1424–1432. https://​doi.​org/​10.​1001/​jamaneurol.​2015.​2274CrossRefPubMed
38.
Zurück zum Zitat Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V (2012) Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 1(22 Suppl 2):S122–S129. https://doi.org/10.1016/j.nmd.2012.05.012CrossRef Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V (2012) Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 1(22 Suppl 2):S122–S129. https://​doi.​org/​10.​1016/​j.​nmd.​2012.​05.​012CrossRef
39.
Zurück zum Zitat Schneider I, Stoltenburg G, Deschauer M, Winterholler M, Hanisch F (2014) Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. Acta Myol 33(1):19–21PubMedPubMedCentral Schneider I, Stoltenburg G, Deschauer M, Winterholler M, Hanisch F (2014) Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. Acta Myol 33(1):19–21PubMedPubMedCentral
44.
45.
Zurück zum Zitat Marago I, Roberts M, Roncaroli F, DuPlessis D, Sewry C, Nagaraju S, Limbada F, Marini-Bettolo C, Hudson J, Banerjee S, Newton L, Bukhari M, Chinoy H, Lilleker JB (2022) Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis. Rheumatology (Oxford) 61(4):1645–1650. https://doi.org/10.1093/rheumatology/keab553. (PMID: 34264321)CrossRefPubMed Marago I, Roberts M, Roncaroli F, DuPlessis D, Sewry C, Nagaraju S, Limbada F, Marini-Bettolo C, Hudson J, Banerjee S, Newton L, Bukhari M, Chinoy H, Lilleker JB (2022) Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis. Rheumatology (Oxford) 61(4):1645–1650. https://​doi.​org/​10.​1093/​rheumatology/​keab553. (PMID: 34264321)CrossRefPubMed
46.
Zurück zum Zitat De Wel B, Huysmans L, Peeters R, Goosens V, Ghysels S, Byloos K, Putzeys G, D’Hondt A, De Bleecker JL, Dupont P, Maes F, Claeys KG (2022) Prospective natural history study in 24 adult patients with LGMDR12 Over 2 years of follow-up: quantitative MRI and clinical outcome measures. Neurology 99(6):e638–e649. https://doi.org/10.1212/WNL.0000000000200708. (Epub 2022 May 16)CrossRefPubMed De Wel B, Huysmans L, Peeters R, Goosens V, Ghysels S, Byloos K, Putzeys G, D’Hondt A, De Bleecker JL, Dupont P, Maes F, Claeys KG (2022) Prospective natural history study in 24 adult patients with LGMDR12 Over 2 years of follow-up: quantitative MRI and clinical outcome measures. Neurology 99(6):e638–e649. https://​doi.​org/​10.​1212/​WNL.​0000000000200708​. (Epub 2022 May 16)CrossRefPubMed
47.
Zurück zum Zitat Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D’Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C (2018) MRI in sarcoglycanopathies: a large international cohort study. J Neurol Neurosurg Psychiatry 89(1):72–77. https://doi.org/10.1136/jnnp-2017-316736. (Epub 2017 Sep 9)CrossRefPubMed Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D’Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C (2018) MRI in sarcoglycanopathies: a large international cohort study. J Neurol Neurosurg Psychiatry 89(1):72–77. https://​doi.​org/​10.​1136/​jnnp-2017-316736. (Epub 2017 Sep 9)CrossRefPubMed
49.
Zurück zum Zitat Gonzalez-Quereda L, Gallardo E, Töpf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J (2018) A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement. Neuromuscul Disord 28(8):633–638. https://doi.org/10.1016/j.nmd.2018.06.002. (Epub 2018 Jul 13)CrossRefPubMed Gonzalez-Quereda L, Gallardo E, Töpf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J (2018) A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement. Neuromuscul Disord 28(8):633–638. https://​doi.​org/​10.​1016/​j.​nmd.​2018.​06.​002. (Epub 2018 Jul 13)CrossRefPubMed
50.
Zurück zum Zitat Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I (2018) Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. Neuromuscul Disord 28(8):625–632. https://doi.org/10.1016/j.nmd.2018.05.005. (Epub 2018 May 17)CrossRefPubMed Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I (2018) Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. Neuromuscul Disord 28(8):625–632. https://​doi.​org/​10.​1016/​j.​nmd.​2018.​05.​005. (Epub 2018 May 17)CrossRefPubMed
51.
Zurück zum Zitat Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP (2018) A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature. Neuromuscul Disord 28(6):532–537. https://doi.org/10.1016/j.nmd.2018.04.006. (Epub 2018 Apr 13)CrossRefPubMed Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP (2018) A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature. Neuromuscul Disord 28(6):532–537. https://​doi.​org/​10.​1016/​j.​nmd.​2018.​04.​006. (Epub 2018 Apr 13)CrossRefPubMed
54.
Zurück zum Zitat Negrão L, Matos A, Geraldo A, Rebelo O (2010) Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene. Acta Myol 29(1):21–24PubMedPubMedCentral Negrão L, Matos A, Geraldo A, Rebelo O (2010) Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene. Acta Myol 29(1):21–24PubMedPubMedCentral
56.
Zurück zum Zitat Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V (2017) A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscul Disord 27(11):1043–1046. https://doi.org/10.1016/j.nmd.2017.07.006. (Epub 2017 Jul 17. Erratum in: Neuromuscul Disord. 2017 Dec 12)CrossRefPubMed Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V (2017) A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscul Disord 27(11):1043–1046. https://​doi.​org/​10.​1016/​j.​nmd.​2017.​07.​006. (Epub 2017 Jul 17. Erratum in: Neuromuscul Disord. 2017 Dec 12)CrossRefPubMed
59.
Zurück zum Zitat Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H (2014) Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy. Neuromuscul Disord 24(11):990–992. https://doi.org/10.1016/j.nmd.2014.06.440. (Epub 2014 Jul 3)CrossRefPubMed Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H (2014) Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy. Neuromuscul Disord 24(11):990–992. https://​doi.​org/​10.​1016/​j.​nmd.​2014.​06.​440. (Epub 2014 Jul 3)CrossRefPubMed
63.
Zurück zum Zitat Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A (2013) A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation. Neuromuscul Disord 23(6):478–482. https://doi.org/10.1016/j.nmd.2013.02.003. (Epub 2013 Mar 28)CrossRefPubMed Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A (2013) A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation. Neuromuscul Disord 23(6):478–482. https://​doi.​org/​10.​1016/​j.​nmd.​2013.​02.​003. (Epub 2013 Mar 28)CrossRefPubMed
64.
Zurück zum Zitat Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V (2019) Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. J Neurol Neurosurg Psychiatry 90(4):490–493. https://doi.org/10.1136/jnnp-2018-318288. (Epub 2018 Jun 19)CrossRefPubMed Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V (2019) Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. J Neurol Neurosurg Psychiatry 90(4):490–493. https://​doi.​org/​10.​1136/​jnnp-2018-318288. (Epub 2018 Jun 19)CrossRefPubMed
65.
Zurück zum Zitat Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C (2019) Novel TRIM32 mutation in sarcotubular myopathy. Acta Myol 38(1):8–12PubMedPubMedCentral Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C (2019) Novel TRIM32 mutation in sarcotubular myopathy. Acta Myol 38(1):8–12PubMedPubMedCentral
67.
Zurück zum Zitat Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D’Amico A, Santorelli FM, Italian CMD Network (2018) Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet J Rare Dis 13(1):170. https://doi.org/10.1186/s13023-018-0863-xCrossRefPubMedPubMedCentral Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D’Amico A, Santorelli FM, Italian CMD Network (2018) Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet J Rare Dis 13(1):170. https://​doi.​org/​10.​1186/​s13023-018-0863-xCrossRefPubMedPubMedCentral
69.
Zurück zum Zitat Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C (2016) A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med 8(11):1289–1309. https://doi.org/10.15252/emmm.201505815CrossRefPubMedPubMedCentral Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C (2016) A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med 8(11):1289–1309. https://​doi.​org/​10.​15252/​emmm.​201505815CrossRefPubMedPubMedCentral
70.
Zurück zum Zitat Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C (2020) POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol 139(3):565–582. https://doi.org/10.1007/s00401-019-02117-6. (Epub 2020 Jan 3)CrossRefPubMedPubMedCentral Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C (2020) POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol 139(3):565–582. https://​doi.​org/​10.​1007/​s00401-019-02117-6. (Epub 2020 Jan 3)CrossRefPubMedPubMedCentral
71.
Zurück zum Zitat Bohlega SA, Alfawaz S, Abou-Al-Shaar H, Al-Hindi HN, Murad HN, Bohlega MS, Meyer BF, Monies D (2018) LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation. Acta Myol 37(3):221–226PubMedPubMedCentral Bohlega SA, Alfawaz S, Abou-Al-Shaar H, Al-Hindi HN, Murad HN, Bohlega MS, Meyer BF, Monies D (2018) LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation. Acta Myol 37(3):221–226PubMedPubMedCentral
72.
Zurück zum Zitat Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B (2018) Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. Eur J Neurol 25(5):790–794. https://doi.org/10.1111/ene.13598. (Epub 2018 Mar 30)CrossRefPubMed Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B (2018) Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. Eur J Neurol 25(5):790–794. https://​doi.​org/​10.​1111/​ene.​13598. (Epub 2018 Mar 30)CrossRefPubMed
82.
Zurück zum Zitat Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R (2013) Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain 136(5):1508–1517. https://doi.org/10.1093/brain/awt074. (Epub 2013 Mar 29)CrossRefPubMedPubMedCentral Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R (2013) Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain 136(5):1508–1517. https://​doi.​org/​10.​1093/​brain/​awt074. (Epub 2013 Mar 29)CrossRefPubMedPubMedCentral
84.
Zurück zum Zitat Berardo A, Lornage X, Johari M, Evangelista T, Cejas C, Barroso F, Dubrovsky A, Bui MT, Brochier G, Saccoliti M, Bohm J, Udd B, Laporte J, Romero NB, Taratuto AL (2019) HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes. J Neurol 266(10):2524–2534. https://doi.org/10.1007/s00415-019-09437-3. (Epub 2019 Jul 2)CrossRefPubMed Berardo A, Lornage X, Johari M, Evangelista T, Cejas C, Barroso F, Dubrovsky A, Bui MT, Brochier G, Saccoliti M, Bohm J, Udd B, Laporte J, Romero NB, Taratuto AL (2019) HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes. J Neurol 266(10):2524–2534. https://​doi.​org/​10.​1007/​s00415-019-09437-3. (Epub 2019 Jul 2)CrossRefPubMed
88.
Zurück zum Zitat Grigull L, Lechner W, Petri S, Kollewe K, Dengler R, Mehmecke S, Schumacher U, Lücke T, Schneider-Gold C, Köhler C, Güttsches AK, Kortum X, Klawonn F (2016) Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial. BMC Med Inform Decis Mak 8(16):31. https://doi.org/10.1186/s12911-016-0268-5CrossRef Grigull L, Lechner W, Petri S, Kollewe K, Dengler R, Mehmecke S, Schumacher U, Lücke T, Schneider-Gold C, Köhler C, Güttsches AK, Kortum X, Klawonn F (2016) Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial. BMC Med Inform Decis Mak 8(16):31. https://​doi.​org/​10.​1186/​s12911-016-0268-5CrossRef
91.
Zurück zum Zitat Khan IA, Mahabadi N, D’Abarno A, Varacallo M (2022) Anatomy, bony pelvis and lower limb, leg lateral compartment. 2022 Aug 8. In: StatPearls. Treasure Island (FL): StatPearls Publishing Khan IA, Mahabadi N, D’Abarno A, Varacallo M (2022) Anatomy, bony pelvis and lower limb, leg lateral compartment. 2022 Aug 8. In: StatPearls. Treasure Island (FL): StatPearls Publishing
Metadaten
Titel
Muscle MRI patterns for limb girdle muscle dystrophies: systematic review
verfasst von
Issa Alawneh
Ana Stosic
Hernan Gonorazky
Publikationsdatum
02.05.2023
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Neurology / Ausgabe 8/2023
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-023-11722-1

Weitere Artikel der Ausgabe 8/2023

Journal of Neurology 8/2023 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Schützt Olivenöl vor dem Tod durch Demenz?

10.05.2024 Morbus Alzheimer Nachrichten

Konsumieren Menschen täglich 7 Gramm Olivenöl, ist ihr Risiko, an einer Demenz zu sterben, um mehr als ein Viertel reduziert – und dies weitgehend unabhängig von ihrer sonstigen Ernährung. Dafür sprechen Auswertungen zweier großer US-Studien.

Bluttest erkennt Parkinson schon zehn Jahre vor der Diagnose

10.05.2024 Parkinson-Krankheit Nachrichten

Ein Bluttest kann abnorm aggregiertes Alpha-Synuclein bei einigen Menschen schon zehn Jahre vor Beginn der motorischen Parkinsonsymptome nachweisen. Mit einem solchen Test lassen sich möglicherweise Prodromalstadien erfassen und die Betroffenen früher behandeln.

Darf man die Behandlung eines Neonazis ablehnen?

08.05.2024 Gesellschaft Nachrichten

In einer Leseranfrage in der Zeitschrift Journal of the American Academy of Dermatology möchte ein anonymer Dermatologe bzw. eine anonyme Dermatologin wissen, ob er oder sie einen Patienten behandeln muss, der eine rassistische Tätowierung trägt.

Wartezeit nicht kürzer, aber Arbeit flexibler

Psychotherapie Medizin aktuell

Fünf Jahren nach der Neugestaltung der Psychotherapie-Richtlinie wurden jetzt die Effekte der vorgenommenen Änderungen ausgewertet. Das Hauptziel der Novellierung war eine kürzere Wartezeit auf Therapieplätze. Dieses Ziel wurde nicht erreicht, es gab jedoch positive Auswirkungen auf andere Bereiche.

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.