Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency

Khawajazada, Tahmina; Kass, Konni; Rudolf, K.; Borch, Josefine de Stricker; Sheikh, Aisha Munawar; Witting, Nanna; Vissing, John

doi:10.1111/ene.14979

Cited by 14 publications

(28 citation statements)

References 42 publications

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“…Muscle involvement in dysferlinopathy is similar to observations in other forms of LGMD. In LGMD R1/2A 34 and LGMD R9/2I, 19 however, anterior muscles are less impacted in LGMD R9/2I, whereas, in LGMD R12/2L, 35 a higher level of asymmetry might be present.…”

Section: Discussionmentioning

confidence: 91%

Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

Reyngoudt

Smith

Araujo

et al. 2022

J cachexia sarcopenia muscle

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Background Natural history studies in neuromuscular disorders are vital to understand the disease evolution and to find sensitive outcome measures. We performed a longitudinal assessment of quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy ( 31 P MRS) outcome measures and evaluated their relationship with function in lower limb skeletal muscle of dysferlinopathy patients. Methods Quantitative MRI/ 31 P MRS data were obtained at 3 T in two different sites in 54 patients and 12 controls, at baseline, and three annual follow-up visits. Fat fraction (FF), contractile cross-sectional area (cCSA), and muscle water T 2 in both global leg and thigh segments and individual muscles and 31 P MRS indices in the anterior leg compartment were assessed. Analysis included comparisons between patients and controls, assessments of annual changes using a linear mixed model, standardized response means (SRM), and correlations between MRI and 31 P MRS markers and functional markers. Results Posterior muscles in thigh and leg showed the highest FF values. FF at baseline was highly heterogeneous across patients. In ambulant patients, median annual increases in global thigh and leg segment FF values were 4.1% and 3.0%, respectively (P < 0.001). After 3 years, global thigh and leg FF increases were 9.6% and 8.4%, respectively (P < 0.001). SRM values for global thigh FF were over 0.8 for all years. Vastus lateralis muscle showed the highest SRM values across all time points. cCSA decreased significantly after 3 years with median values of 11.0% and 12.8% in global thigh and global leg, respectively (P < 0.001). Water T 2 values in ambulant patients were significantly increased, as compared with control values (P < 0.001). The highest water T 2 values were found in the anterior part of thigh and leg. Almost all 31 P MRS indices were significantly different in patients as compared with controls (P < 0.006), except for pH w , and remained, similar as to water T 2 , abnormal for the whole study duration. Global thigh water T 2 at baseline was significantly correlated to the change in FF after 3 years (ρ = 0.52, P < 0.001). There was also a significant relationship between the change in functional score and change in FF after 3 years in ambulant patients (ρ = À0.55, P = 0.010).

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Section: Discussionmentioning

confidence: 91%

Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

Reyngoudt

Smith

Araujo

et al. 2022

J cachexia sarcopenia muscle

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“…It is of interest that it was recently shown that the overall muscle involvement in LGMDR12 is generally symmetric, although asymmetric involvement of muscle groups is possible. 8 Finally, we observed that the healthy control group experienced a small increase in 6MWD at year 1 and a small (but significant) decrease in the 10MWT, both of which remained stable at the final visit. This is possibly due to a learning effect, as has been previously described for the 6MWD in both the healthy controls and patients with neuromuscular disorders.…”

Section: Clinical Outcome Measuresmentioning

confidence: 58%

“…It is of interest that it was recently shown that the overall muscle involvement in LGMDR12 is generally symmetric, although asymmetric involvement of muscle groups is possible. 8…”

Section: Discussionmentioning

confidence: 99%

Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up

et al. 2022

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Background and Objectives:Limb-Girdle Muscular Dystrophy autosomal recessive type 12 (LGMDR12) is a rare hereditary muscular dystrophy for which outcome measures are currently lacking. We evaluated quantitative MRI and clinical outcome measures to track disease progression, in order to determine which tests could be useful in future clinical trials to evaluate potential therapies.Methods:We prospectively measured the following outcome measures in all participants at baseline and after 1 and 2 years: six-minute walk distance (6MWD), 10-meter walk test (10MWT), Medical Research Council (MRC) sum scores, Biodex® isometric dynamometry, serum creatine kinase (CK) and 6-point Dixon MRI of the thighs.Results:We included 24 genetically confirmed, adult LGMDR12 patients and 24 age- and sex-matched healthy controls. Patients with intermediate stage thigh muscle fat replacement at baseline (proton density fat fraction (PDFF) 20-70%) already showed a significant increase in PDFF in 8/14 evaluated thigh muscles after one year. The standardized response mean (SRM) demonstrated a high responsiveness to change in PDFF for 6 individual muscles over 2 years in this group. However, in patients with early (<20%) or end stage (>70%) muscle fat replacement, PDFF did not increase significantly over two years of follow-up.Biodex® isometric dynamometry showed a significant decrease of muscle strength in all patients in the right and left hamstrings (-6.2Nm, p<0.002 and -4.6 Nm, p<0.009, respectively) and right quadriceps muscles (-9 Nm, p=0.044) after 1 year of follow-up, whereas the 6MWD, 10MWT, and MRC sum scores were not able to detect a significant decrease in muscle function/strength even after two years. There was a moderately strong correlation between total thigh PDFF and clinical outcome measures at baseline.Discussion:Thigh muscle PDFF imaging is a sensitive outcome measure to track progressive muscle fat replacement in selected LGMDR12 patients even after one year of follow-up and correlates with clinical outcome measures. Biodex® isometric dynamometry can reliably capture loss of muscle strength over the course of one year in LGMDR12 patients and should be included as an outcome measure in future clinical trials as well.

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“…Gonzalez‐Quereda reported severe involvement of lumbar paraspinal muscles in three siblings with LGMDR3 18 . A study from our center quantified axial muscle involvement in patients with LGMDR12, showing almost normal fat fractions of axial muscles in the patients compared to healthy controls 16 . Two studies described involvement of the abdominal muscles qualitatively in LGMDR2 2 and R12, 3 and found moderate weakness of abdominal muscles.…”

Section: Discussionmentioning

confidence: 98%

Axial muscle involvement in patients with limb girdle muscular dystrophy type R9

et al. 2022

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Introduction/Aims Limb girdle muscular dystrophy type R9 (LGMDR9) is characterized by progressive weakness of the shoulder and hip girdles. Involvement of proximal extremity muscles is well‐described whereas information about axial muscle involvement is lacking. It is important to recognize the involvement of axial muscles to understand functional challenges for the patients. The aim of this study was to investigate the involvement of axial and leg muscles in patients with LGMDR9. Methods This observational, cross‐sectional study investigated fat replacement of axial and leg muscles in 14 patients with LGMDR9 and 13 matched, healthy controls using quantitative MRI (Dixon technique). We investigated paraspinal muscles at three levels, psoas major at the lumbar level, and leg muscles in the thigh and calf. Trunk strength was assessed with stationary dynamometry and manual muscle tests. Results Patients with LGMDR9 had significantly increased fat replacement of all investigated axial muscles compared with healthy controls (P < .05). Trunk extension and flexion strength were significantly reduced in patients. Extension strength correlated negatively with mean fat fraction of paraspinal muscles. Fat fractions of all investigated leg muscles were significantly increased versus controls, with the posterior thigh muscles being the most severely affected. Discussion Patients with LGMDR9 have severe involvement of their axial muscles and correspondingly have reduced trunk extension and flexion strength. Our findings define the axial muscles as some of the most severely involved muscle groups in LGMDR9, which should be considered in the clinical management of the disorder and monitoring of disease progression.

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Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency

Cited by 14 publications

References 42 publications

Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up

Axial muscle involvement in patients with limb girdle muscular dystrophy type R9

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