Muscle MRI in McArdle Disease: A European Multicenter Observational Study

Nicoline Løkken; Karoline Lolk Revsbech; Laura Nørager Jacobsen; Andrea Martinuzzi; Miguel Ángel Martin; Jordi Díaz-Manera; Cristina Dominguez-Gonzalez; Giovanni Brondani; Olimpia Musumeci; Francesca Granata; Cristina Stefan; Concepción Merino-Sanchez; Claudia Nuñez Peralta; Tahmina Khawajazada; Jorge Alonso-Pérez; Antonio Toscano; John Vissing

doi:10.1212/WNL.0000000000200914

Muscle MRI in McArdle Disease: A European Multicenter Observational Study

Nicoline Løkken^*, Karoline Lolk Revsbech, Laura Nørager Jacobsen, Andrea Martinuzzi, Miguel Ángel Martin, Jordi Díaz-Manera, Cristina Dominguez-Gonzalez, Giovanni Brondani, Olimpia Musumeci, Francesca Granata, Cristina Stefan, Concepción Merino-Sanchez, Claudia Nuñez Peralta, Tahmina Khawajazada, Jorge Alonso-Pérez, Antonio Toscano, John Vissing

^*Corresponding author for this work

Department of Neurology

Abstract

BACKGROUND AND OBJECTIVES: Glycogen storage disease type V (GSDV) or McArdle disease is a muscle glycogenosis that classically manifests with exercise intolerance and exercise-induced muscle pain. Muscle weakness and wasting may occur, but it is typically mild and described as located around the shoulder girdle in elderly patients. Paraspinal muscle involvement has received little attention in the literature. This study aimed to quantify fat replacement of paraspinal, shoulder, and lower limb muscles by magnetic resonance imaging in a European cohort of patients with GSDV.

METHODS: This observational study included patients with verified GSDV and healthy controls (HCs). Whole-body MRIs and clinical data were collected. The degree of muscle fat replacement was evaluated on T1-weighted images with the semiquantitative visual Mercuri scale and on Dixon images where individual muscle fat fractions (FFs) were quantitatively calculated.

RESULTS: MRIs and clinical data from a total of 57 patients with GSDV (age 44.3 ± 15.2 years) from 5 European centers were assessed and compared with findings in 30 HCs (age 42.4 ± 14.8 years). Patients with GSDV had significantly more fat replacement of the paraspinal muscles compared with HCs on all levels investigated, detected by both the Mercuri and the Dixon method (Dixon, paraspinal composite FF [GSDV vs HC] at the cervical level: 31.3 ± 13.1 vs 15.4 ± 7.8; thoracic level: 34.5±19.0 vs 16.9±8.6; and lumbar level: 43.9 ± 19.6 vs 21.8 ± 10.2 [p < 0.0001]). Patients with GSDV also had significantly more fat replacement of the shoulder muscles (evaluated by the Mercuri scale), along with significantly, but numerically less, fat replacement of thigh and calf muscles compared with HC (Dixon, lower limb composite FF [GSDV vs HC] at the thigh level: 12.0 ± 5.6 vs 8.8 ± 2.7 and calf level: 13.1 ± 6.7 vs 9.1 ± 2.9 [p ≤ 0.05]).

DISCUSSION: The primary findings are that patients with GSDV exhibit severe fat replacement of the paraspinal muscles, which can have important implications for the future management of patients with GSDV, and also significant fat replacement of shoulder girdle muscles as previously described. The clinical relevance of the discrete increases in lower limb FF is uncertain. The changes were found to be age-related in both groups, but an accelerated effect was found in GSDV, probably due to continuous muscle damage.

Original language	English
Journal	Neurology
Volume	99
Issue number	15
Pages (from-to)	e1664-e1675
Number of pages	12
ISSN	0028-3878
DOIs	https://doi.org/10.1212/WNL.0000000000200914
Publication status	Published - 2022

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Løkken, N., Revsbech, K. L., Jacobsen, L. N., Martinuzzi, A., Martin, M. Á., Díaz-Manera, J., Dominguez-Gonzalez, C., Brondani, G., Musumeci, O., Granata, F., Stefan, C., Merino-Sanchez, C., Peralta, C. N., Khawajazada, T., Alonso-Pérez, J., Toscano, A., & Vissing, J. (2022). Muscle MRI in McArdle Disease: A European Multicenter Observational Study. Neurology, 99(15), e1664-e1675. https://doi.org/10.1212/WNL.0000000000200914

Løkken, N, Revsbech, KL, Jacobsen, LN, Martinuzzi, A, Martin, MÁ, Díaz-Manera, J, Dominguez-Gonzalez, C, Brondani, G, Musumeci, O, Granata, F, Stefan, C, Merino-Sanchez, C, Peralta, CN, Khawajazada, T, Alonso-Pérez, J, Toscano, A & Vissing, J 2022, 'Muscle MRI in McArdle Disease: A European Multicenter Observational Study', Neurology, vol. 99, no. 15, pp. e1664-e1675. https://doi.org/10.1212/WNL.0000000000200914

@article{4732481ad82040fb864302c926dbced6,

title = "Muscle MRI in McArdle Disease: A European Multicenter Observational Study",

abstract = "BACKGROUND AND OBJECTIVES: Glycogen storage disease type V (GSDV) or McArdle disease is a muscle glycogenosis that classically manifests with exercise intolerance and exercise-induced muscle pain. Muscle weakness and wasting may occur, but it is typically mild and described as located around the shoulder girdle in elderly patients. Paraspinal muscle involvement has received little attention in the literature. This study aimed to quantify fat replacement of paraspinal, shoulder, and lower limb muscles by magnetic resonance imaging in a European cohort of patients with GSDV.METHODS: This observational study included patients with verified GSDV and healthy controls (HCs). Whole-body MRIs and clinical data were collected. The degree of muscle fat replacement was evaluated on T1-weighted images with the semiquantitative visual Mercuri scale and on Dixon images where individual muscle fat fractions (FFs) were quantitatively calculated.RESULTS: MRIs and clinical data from a total of 57 patients with GSDV (age 44.3 ± 15.2 years) from 5 European centers were assessed and compared with findings in 30 HCs (age 42.4 ± 14.8 years). Patients with GSDV had significantly more fat replacement of the paraspinal muscles compared with HCs on all levels investigated, detected by both the Mercuri and the Dixon method (Dixon, paraspinal composite FF [GSDV vs HC] at the cervical level: 31.3 ± 13.1 vs 15.4 ± 7.8; thoracic level: 34.5±19.0 vs 16.9±8.6; and lumbar level: 43.9 ± 19.6 vs 21.8 ± 10.2 [p < 0.0001]). Patients with GSDV also had significantly more fat replacement of the shoulder muscles (evaluated by the Mercuri scale), along with significantly, but numerically less, fat replacement of thigh and calf muscles compared with HC (Dixon, lower limb composite FF [GSDV vs HC] at the thigh level: 12.0 ± 5.6 vs 8.8 ± 2.7 and calf level: 13.1 ± 6.7 vs 9.1 ± 2.9 [p ≤ 0.05]).DISCUSSION: The primary findings are that patients with GSDV exhibit severe fat replacement of the paraspinal muscles, which can have important implications for the future management of patients with GSDV, and also significant fat replacement of shoulder girdle muscles as previously described. The clinical relevance of the discrete increases in lower limb FF is uncertain. The changes were found to be age-related in both groups, but an accelerated effect was found in GSDV, probably due to continuous muscle damage.",

author = "Nicoline L{\o}kken and Revsbech, {Karoline Lolk} and Jacobsen, {Laura N{\o}rager} and Andrea Martinuzzi and Martin, {Miguel {\'A}ngel} and Jordi D{\'i}az-Manera and Cristina Dominguez-Gonzalez and Giovanni Brondani and Olimpia Musumeci and Francesca Granata and Cristina Stefan and Concepci{\'o}n Merino-Sanchez and Peralta, {Claudia Nu{\~n}ez} and Tahmina Khawajazada and Jorge Alonso-P{\'e}rez and Antonio Toscano and John Vissing",

note = "{\textcopyright} 2022 American Academy of Neurology.",

year = "2022",

doi = "10.1212/WNL.0000000000200914",

language = "English",

volume = "99",

pages = "e1664--e1675",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams & Wilkins",

number = "15",

}

TY - JOUR

T1 - Muscle MRI in McArdle Disease

T2 - A European Multicenter Observational Study

AU - Løkken, Nicoline

AU - Revsbech, Karoline Lolk

AU - Jacobsen, Laura Nørager

AU - Martinuzzi, Andrea

AU - Martin, Miguel Ángel

AU - Díaz-Manera, Jordi

AU - Dominguez-Gonzalez, Cristina

AU - Brondani, Giovanni

AU - Musumeci, Olimpia

AU - Granata, Francesca

AU - Stefan, Cristina

AU - Merino-Sanchez, Concepción

AU - Peralta, Claudia Nuñez

AU - Khawajazada, Tahmina

AU - Alonso-Pérez, Jorge

AU - Toscano, Antonio

AU - Vissing, John

PY - 2022

Y1 - 2022

N2 - BACKGROUND AND OBJECTIVES: Glycogen storage disease type V (GSDV) or McArdle disease is a muscle glycogenosis that classically manifests with exercise intolerance and exercise-induced muscle pain. Muscle weakness and wasting may occur, but it is typically mild and described as located around the shoulder girdle in elderly patients. Paraspinal muscle involvement has received little attention in the literature. This study aimed to quantify fat replacement of paraspinal, shoulder, and lower limb muscles by magnetic resonance imaging in a European cohort of patients with GSDV.METHODS: This observational study included patients with verified GSDV and healthy controls (HCs). Whole-body MRIs and clinical data were collected. The degree of muscle fat replacement was evaluated on T1-weighted images with the semiquantitative visual Mercuri scale and on Dixon images where individual muscle fat fractions (FFs) were quantitatively calculated.RESULTS: MRIs and clinical data from a total of 57 patients with GSDV (age 44.3 ± 15.2 years) from 5 European centers were assessed and compared with findings in 30 HCs (age 42.4 ± 14.8 years). Patients with GSDV had significantly more fat replacement of the paraspinal muscles compared with HCs on all levels investigated, detected by both the Mercuri and the Dixon method (Dixon, paraspinal composite FF [GSDV vs HC] at the cervical level: 31.3 ± 13.1 vs 15.4 ± 7.8; thoracic level: 34.5±19.0 vs 16.9±8.6; and lumbar level: 43.9 ± 19.6 vs 21.8 ± 10.2 [p < 0.0001]). Patients with GSDV also had significantly more fat replacement of the shoulder muscles (evaluated by the Mercuri scale), along with significantly, but numerically less, fat replacement of thigh and calf muscles compared with HC (Dixon, lower limb composite FF [GSDV vs HC] at the thigh level: 12.0 ± 5.6 vs 8.8 ± 2.7 and calf level: 13.1 ± 6.7 vs 9.1 ± 2.9 [p ≤ 0.05]).DISCUSSION: The primary findings are that patients with GSDV exhibit severe fat replacement of the paraspinal muscles, which can have important implications for the future management of patients with GSDV, and also significant fat replacement of shoulder girdle muscles as previously described. The clinical relevance of the discrete increases in lower limb FF is uncertain. The changes were found to be age-related in both groups, but an accelerated effect was found in GSDV, probably due to continuous muscle damage.

AB - BACKGROUND AND OBJECTIVES: Glycogen storage disease type V (GSDV) or McArdle disease is a muscle glycogenosis that classically manifests with exercise intolerance and exercise-induced muscle pain. Muscle weakness and wasting may occur, but it is typically mild and described as located around the shoulder girdle in elderly patients. Paraspinal muscle involvement has received little attention in the literature. This study aimed to quantify fat replacement of paraspinal, shoulder, and lower limb muscles by magnetic resonance imaging in a European cohort of patients with GSDV.METHODS: This observational study included patients with verified GSDV and healthy controls (HCs). Whole-body MRIs and clinical data were collected. The degree of muscle fat replacement was evaluated on T1-weighted images with the semiquantitative visual Mercuri scale and on Dixon images where individual muscle fat fractions (FFs) were quantitatively calculated.RESULTS: MRIs and clinical data from a total of 57 patients with GSDV (age 44.3 ± 15.2 years) from 5 European centers were assessed and compared with findings in 30 HCs (age 42.4 ± 14.8 years). Patients with GSDV had significantly more fat replacement of the paraspinal muscles compared with HCs on all levels investigated, detected by both the Mercuri and the Dixon method (Dixon, paraspinal composite FF [GSDV vs HC] at the cervical level: 31.3 ± 13.1 vs 15.4 ± 7.8; thoracic level: 34.5±19.0 vs 16.9±8.6; and lumbar level: 43.9 ± 19.6 vs 21.8 ± 10.2 [p < 0.0001]). Patients with GSDV also had significantly more fat replacement of the shoulder muscles (evaluated by the Mercuri scale), along with significantly, but numerically less, fat replacement of thigh and calf muscles compared with HC (Dixon, lower limb composite FF [GSDV vs HC] at the thigh level: 12.0 ± 5.6 vs 8.8 ± 2.7 and calf level: 13.1 ± 6.7 vs 9.1 ± 2.9 [p ≤ 0.05]).DISCUSSION: The primary findings are that patients with GSDV exhibit severe fat replacement of the paraspinal muscles, which can have important implications for the future management of patients with GSDV, and also significant fat replacement of shoulder girdle muscles as previously described. The clinical relevance of the discrete increases in lower limb FF is uncertain. The changes were found to be age-related in both groups, but an accelerated effect was found in GSDV, probably due to continuous muscle damage.

UR - http://www.scopus.com/inward/record.url?scp=85140049000&partnerID=8YFLogxK

U2 - 10.1212/WNL.0000000000200914

DO - 10.1212/WNL.0000000000200914

M3 - Journal article

C2 - 35853747

SN - 0028-3878

VL - 99

SP - e1664-e1675

JO - Neurology

JF - Neurology

IS - 15

ER -

Muscle MRI in McArdle Disease: A European Multicenter Observational Study

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