Body composition in patients with congenital myotonic dystrophy

Ceballos‐Sáenz, Delia; Zapata‐Aldana, Eugenio; Singeris, Stephanie; Hicks, Rhiannon; Johnson, Nicholas E.; Campbell, Craig

doi:10.1002/mus.26509

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…The observed muscle loss in this study is similar to DXA analysis in myopathies such as in fukutin‐related protein limb‐girdle muscular dystrophy, inclusion body myositis, ALS and facioscapulohumeral muscular dystrophy 8,12–14,24–26 . These changes can become more pronounced in severe stages of VCP disease, which clinically manifests as reduced muscle strength and paresis 7,27 .…”

Section: Discussionsupporting

confidence: 80%

“…The observed muscle loss in this study is similar to DXA analysis in myopathies such as in fukutin-related protein limb-girdle muscular dystrophy, inclusion body myositis, ALS and facioscapulohumeral muscular dystrophy. 8,[12][13][14][24][25][26] These changes can become more pronounced in severe stages of VCP disease, which clinically manifests as reduced muscle strength and paresis. 7,27 Our study suggests that muscle loss and fat replacement dynamics may not be immediately or at all reflected through the body mass index (BMI), while significantly altering the body composition of the patients.…”

Section: Simple Linear Regression Analysis Between Fat Mass In Kilogrammentioning

confidence: 99%

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Cross‐sectional study of patients with VCP multisystem proteinopathy 1 using dual‐energy x‐ray absorptiometry

Columbres,

Luu,

Nguyen

et al. 2024

Muscle and Nerve

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Introduction/AimsVCP multisystem proteinopathy 1 (MSP1), encompassing inclusion body myopathy (IBM), Paget's disease of bone (PDB) and frontotemporal dementia (FTD) (IBMPFD), features progressive muscle weakness, fatty infiltration, and disorganized bone structure in Pagetic bones. The aim of this study is to utilize dual‐energy x‐ray absorptiometry (DXA) parameters to examine it as a biomarker of muscle and bone disease in MSP1.MethodsDXA scans were obtained in 28 patients to assess body composition parameters (bone mineral density [BMD], T‐score, total fat, and lean mass) across different groups: total VCP disease (n = 19), including myopathy without Paget's (“myopathy”; n = 12) and myopathy with Paget's (“Paget”; n = 7), and unaffected first‐degree relatives serving as controls (n = 6).ResultsIn the VCP disease group, significant declines in left hip BMD and Z‐scores were noted versus the control group (p ≤ .03). The VCP disease group showed decreased whole body lean mass % (p = .04), and increased total body fat % (p = .04) compared to controls. Subgroup comparisons indicated osteopenia in 33.3% and osteoporosis in 8.3% of the myopathy group, with 14.3% exhibiting osteopenia in the Paget group. Moreover, the Paget group displayed higher lumbar L1‐L4 T‐score values than the myopathy group.DiscussionIn MSP1, DXA revealed reduced bone and lean mass, and increased fat mass. These DXA insights could aid in monitoring disease progression of muscle loss and secondary osteopenia/osteoporosis in MSP1, providing value both clinically and in clinical research.

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Section: Discussionsupporting

confidence: 80%

Section: Simple Linear Regression Analysis Between Fat Mass In Kilogrammentioning

confidence: 99%

Cross‐sectional study of patients with VCP multisystem proteinopathy 1 using dual‐energy x‐ray absorptiometry

Columbres,

Luu,

Nguyen

et al. 2024

Muscle and Nerve

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“…Body composition using DEXA correlates with motor strength and is an important biomarker. [11] DEXA in patients with neurological and muscular disorders reflects nutritional imbalance and energy intake in body composition.…”

Section: Introductionmentioning

confidence: 99%

Assessment of body composition, metabolism, and pulmonary function in patients with myotonic dystrophy type 1

et al. 2022

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Abnormal body composition in myotonic dystrophy type 1 (DM1) are affected by energy intake above resting energy expenditure (REE). We aim to investigate the characteristics and relationship between body composition, REE, and pulmonary function in patients with DM1, and to examine their changes in 1 year. The study design was a single-center, cross-sectional, and longitudinal study of body composition, REE characteristics, and pulmonary function. Twenty-one male patients with DM1 and 16 healthy volunteers were registered in the study. Body composition was measured using dual-energy X-ray absorptiometry (DEXA). Fat mass (FM) index (kg/m 2 ), fat-FM index (kg/m 2 ), and skeletal mass index (kg/m 2 ) were calculated. The measurements were taken breath by breath with a portable indirect calorimeter. The REE was calculated using the oxygen intake (VO 2 ) and carbon dioxide output (VCO 2 ) in the Weir equation. Basal energy expenditure (BEE) was calculated by substituting height, weight, and age into the Harris-Benedict equation. The study enrolled male patients with DM1 (n = 12) and healthy male volunteers (n = 16). Patients with DM1 (n = 7) and healthy volunteers (n = 14) could be followed in 1 year. The body composition of patients with DM1 was significantly higher in the FM index and significantly lower in the fat-FM index and skeletal mass index. The REE of patients with DM1 was significantly lower and was not associated with body composition. Patients with DM1 had poor metabolism that was not related to body composition. FM was high and lean body mass was low. Abbreviations: BEE= basal energy expenditure, BMI = body mass index, BW = body weight, CONUT = controlling nutritional status, CPF = cough peak flow, CTG = cytosine-thymine-guanine, DEXA = dual-energy X-ray absorptiometry, DM1 = myotonic dystrophy type 1, FEV1 = forced expiratory volume in 1 second, FFMI = fat free mass index, FM = fat mass, FMI = fat mass index, FVC = forced vital capacity, HR = heart rate, LBM = lean body mass, MIRS = muscular disability rating scale, REE = resting energy expenditure, RR = respiratory rate, SMI = skeletal mass index, TV = tidal volume, VC = vital capacity, VCO 2 = carbon dioxide output, VE = minute ventilation, VO 2 /HR = O 2 pulse, VO 2 = oxygen intake.

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Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy

Serres-Bérard

Pierre

Chahine

et al. 2021

Neurobiology of Disease

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Body composition in patients with congenital myotonic dystrophy

Cited by 3 publications

References 17 publications

Cross‐sectional study of patients with VCP multisystem proteinopathy 1 using dual‐energy x‐ray absorptiometry

Cross‐sectional study of patients with VCP multisystem proteinopathy 1 using dual‐energy x‐ray absorptiometry

Assessment of body composition, metabolism, and pulmonary function in patients with myotonic dystrophy type 1

Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy

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