Body composition analysis in patients with myotonic dystrophy types 1 and 2

Perić, Stojan; Božović, Ivo; Nisic, Tanja; Banović, Marija; Vujnic, Milorad; Svabic, Tamara; Pešović, Jovan; Branković, Miloš; Basta, Ivana; Janković, Milena; Savić‐Pavićević, Dušanka; Rakočević-Stojanović, Vidosava

doi:10.1007/s10072-019-03763-0

Cited by 10 publications

(10 citation statements)

References 29 publications

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“…[18,59] Generally, it has been reported that fat in the trunk and appendicular is increased. [21,31,60] Sarcopenia obesity is defined as an SMI <7.26 kg/m 2 and a body fat percentage >28% for men and an SMI <5.45 kg/m 2 and a body fat percentage >40% for women. [61] As in the previous study, it is a condition of sarcopenia obesity.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

confidence: 99%

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

et al. 2022

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“…The more prevalent obesity in DM2 contrasts the cachexia that occurs in ALS and IBM within months or years due to their different neurogenic or inflammatory pathogenesis [ 4 , 11 , 18 ]. The correlation of a more severe decline of muscular strength with higher fat mass in DM2 coincides with observations of IADL-disability in obese sarcopenic patients [ 18 , 29 ]. Thus, the overweight of our DM2 patient might contribute to his severe functional restrictions.…”

Section: Discussionmentioning

confidence: 99%

“… References: [ 1 , 2 , 4 , 6 , 11 , 12 , 15 – 18 ] ALS amyotrophic lateral sclerosis, DM2 myotonic dystrophy type 2, IBM inclusion body myositis a Prevalence per 100,000 population; b higher prevalence in older people; c in population older than 50 years; d: muscle weakness onset; …”

Section: Methodsmentioning

confidence: 99%

Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia

et al. 2021

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Background Sarcopenia is the age-related loss of muscle mass and strength. Undiagnosed late-onset neuromuscular disorders need to be considered in the differential diagnosis of sarcopenia. Aim Based on emblematic case reports and current neuromuscular diagnostic guidelines for three common late-onset neuromuscular disorders, a differential diagnostic approach for geriatric patients presenting with a sarcopenic phenotype is given. Methods Patients over 65 years of age with sarcopenia, amyotrophic lateral sclerosis, inclusion body myositis and myotonic dystrophy type 2 were recruited. All patients were assessed for sarcopenia based on the revised European consensus definition. Patients with neuromuscular diseases were diagnosed according to the revised El Escorial criteria and the European neuromuscular centre criteria. Phenotypes and diagnostic criteria for all patients were summarized including their specific histopathological findings. Results All patients with neuromuscular diseases were positively screened for sarcopenia and classified as severe sarcopenic by means of assessment. The clinical phenotype, the evolution pattern of weakness and muscle atrophy combined with laboratory finding including electromyography could unquestionably distinguish the diseases. Discussion Neuromuscular disorders can manifest beyond the age of 65 years and misdiagnosed as sarcopenia. The most common diseases are inclusion body myositis, amyotrophic lateral sclerosis and myotonic dystrophy type 2. A diagnostic work-up for neuromuscular diseases ensures their correct diagnosis by clinical-, electrophysiological, histopathological, and genetic work-up. Conclusions In geriatric patients with a focal or asymmetrical muscular weakness and atrophy, sarcopenia assessment should be extended with patient’s history of disease course. Furthermore, concomitant diseases, analysis of serum creatine kinase, electrophysiological examination, and in selected patients muscle biopsy and gene analysis is needed to rule out a late-onset neuromuscular disorder.

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“…A neurobehavioral phenotype of familial Creutzfeldt-Jakob disease lead to Giovagnoli et al [2] to discuss an impairment of theory of mind; a fronto-temporal type of dementia was reported associated to Langerhans cell histiocytosis by Garg et al [3]. Body composition analysis in patients with myotonic dystrophy types 1 and 2 was described by Peric et al [4]; a case report of cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies was reported by Villa et al [5]. Late-onset and fast progressive neuropathy and cardiomyopathy was associated to Val32Ala transthyretin gene mutation (Cazzato et al) [6].…”

Section: Clinical Aspects Of Rare Neurologic Diseasesmentioning

confidence: 99%

Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day

Federico

2020

Neurol Sci

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Body composition analysis in patients with myotonic dystrophy types 1 and 2

Cited by 10 publications

References 29 publications

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

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

Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia

Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day

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