Whole-body muscle MRI in McArdle disease

Tobaly, David; Laforêt, Pascal; Stojkovic, Tanya; Béhin, Anthony; Petit, François; Barp, Andrea; Bello, Luca; Carlier, Pierre; Carlier, Robert‐Yves

doi:10.1016/j.nmd.2021.07.397

Cited by 4 publications

(10 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[24][25][26][27] This study found significantly higher composite FF in both thigh and calves in patients with GSDV compared with HC, but despite the significant difference, the numeric values were at the lower end (FF ≤13.1 [GSDV] vs FF ≤9.1 [HC]). This is in line with mild lower limb findings by both Tobaly and De Kevilier et al 21,23 Maybe for this reason, we did not find any association between fixed weakness and composite FF in the thighs, and the small differences question the clinical meaningfulness of this finding. When evaluating the individual lower limb muscles, we found relative sparring of the thigh muscles VAL, VAI, SAR, and GRA and the calf muscles PER with the quantitative analyses (Dixon), and relative sparing of VAL, VAI, SAR, ADM, SEM, and VAM in the thighs and TA in the calves when evaluating with the semiquantitative Mercuri scale.…”

Section: Discussionsupporting

confidence: 92%

“…This study found a close correlation between composite FF and age at both paraspinal and extremity levels with increasing degree of affection with age, which is in line with previous studies. 21,23 Age-related fat replacement of the paraspinal muscles is a well-known phenomenon in healthy adults, 31 a correlation that was also found in this study's HC group. This study, however, shows that the fat replacement in patients with GSDV exceeds the age-related affection seen in healthy and that patients with GSDV have an accelerated fat replacement of muscles with age.…”

Section: Discussionsupporting

confidence: 79%

“…Although MRI has been acknowledged as the golden standard to visualize muscle quality, only 2 studies 21,23 have evaluated muscle fat replacement with MRI in small cohorts of patients with GSDV, along with 1 case description. 3 De Kerviler et al 23 evaluated composite muscle fat replacement of thigh and calf muscles on MRI in a cohort of 9 patients with GSDV and found higher fat replacement compared with 9 HCs.…”

Section: Discussionmentioning

confidence: 99%

“…Nonetheless, both chronic pain and fixed weakness have been described in patients with GSDV. 2,3,[17][18][19][20][21] Fixed muscle weakness has been described to affect between 21% and 51% of the patients with GSDV, with a late onset in life, and to affect proximal muscles more than distal muscles, and especially to involve the shoulder girdle muscles. 1,2,[18][19][20]22 In one study, muscle weakness was not reported in any patient who was younger than 40 years.…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Muscle MRI in McArdle Disease

et al. 2022

View full text Add to dashboard Cite

Background and ObjectivesGlycogen 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.MethodsThis 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.ResultsMRIs 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]).DiscussionThe 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.

show abstract

Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 79%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Muscle MRI in McArdle Disease

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Tobaly et al [39 ▪ ] examined the MRI findings in 15 McArdle patients (mean age: 49 years), 13 of whom had fixed muscle weakness. Whole-body MRI was performed; the most commonly affected muscles were the subscapularis, anterior serratus, erector spinae and quadratus femoris muscles, with erector spinae muscles showing marked atrophy [39 ▪ ].…”

Section: Genotype-phenotype Expansions For Known Disease Genesmentioning

confidence: 99%

Recent advances in our understanding of genetic rhabdomyolysis

Cabrera‐Serrano

Ravenscroft

2022

Current Opinion in Neurology

View full text Add to dashboard Cite

Purpose of reviewThis review summarizes recent advances in our understanding of the genetics of rhabdomyolysis. Recent findingsRhabdomyolysis is the acute breakdown of myofibres resulting in systemic changes that can be life-threatening. Environmental triggers, including trauma, exercise, toxins and infections, and/or gene defects can precipitate rhabdomyolysis. A schema (aptly titled RHABDO) has been suggested for evaluating whether a patient with rhabdomyolysis is likely to harbour an underlying genetic defect. It is becoming increasingly recognized that defects in muscular dystrophy and myopathy genes can trigger rhabdomyolysis, even as the sole or presenting feature. Variants in genes not previously associated with human disease have been identified recently as causative of rhabdomyolysis, MLIP, MYH1 and OBSCN. Our understanding of the pathomechanisms contributing to rhabdomyolysis have also improved with an increased awareness of the role of mitochondrial dysfunction in LPIN1, FDX2, ISCU and TANGO2-mediated disease.

show abstract

High prevalence of paraspinal muscle involvement in adults with McArdle disease

et al. 2022

View full text Add to dashboard Cite

Introduction/Aims: Very few studies analyzing the pattern of muscle involvement in magnetic resonance imaging (MRI) of patients with McArdle disease have been reported to date. We aimed to examine the pattern of muscle fat replacement in patients with McArdle disease. Methods: We performed a retrospective study including all patients with genetically confirmed McArdle disease followed in our center from January 2010 to March 2021. Clinical data were collected from the medical record. Whole-body MRI was performed as part of the diagnostic evaluation. The distribution of muscle fat replacement and its severity were analyzed.Results: Nine patients were included. Median age at onset was 7 y (range, 5-58) and median age at the time when MRI was performed was 57.3 y (range, 37.2-72.8). At physical examination, four patients had permanent weakness: in three the weakness was limited to paraspinal muscles, whereas in one the weakness involved the paraspinal and proximal upper limb muscles. Muscle MRI showed abnormalities in six of the seven studied patients. In all of them, fat replacement of paravertebral muscles was found. Other muscles frequently affected were the tongue in three, subscapularis in three, and long head of biceps femoris and semimembranosus in two. Discussion: Our findings suggest that paraspinal muscle involvement is common in McArdle disease and support the need to include this disease in the differential diagnosis of the causes of paraspinal muscle weakness. Involvement of the tongue and subscapularis are also frequent in McArdle disease.

show abstract

Whole-body muscle MRI in McArdle disease

Cited by 4 publications

References 35 publications

Muscle MRI in McArdle Disease

Muscle MRI in McArdle Disease

Recent advances in our understanding of genetic rhabdomyolysis

High prevalence of paraspinal muscle involvement in adults with McArdle disease

Contact Info

Product

Resources

About