French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

Attarian, Shahram; Beloribi-Djefaflia, Sadia; Bernard, Rafaelle; Nguyen, Karine; Cances, Claude; Gavazza, Carole; Echaniz-Laguna, Andoni; Espil, Caroline; Evangelista, Teresinha; Feasson, Léonard; Audic, Frédérique; Zagorda, Berenice; Milhe De Bovis, Virginie; Stojkovic, Tanya; Sole, Guilhem; Salort-Campana, Emmanuelle; Sacconi, Sabrina

doi:10.1007/s00415-024-12538-3

J Neurol

2024

DOI: 10.1007/s00415-024-12538-3

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French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

Shahram Attarian,

Sadia Beloribi-Djefaflia,

Rafaelle Bernard

et al.

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Cited by 3 publications

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SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

Gérard,

Delourme,

Tardy

et al. 2024

Eur J Hum Genet

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SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

Gérard,

Delourme,

Tardy

et al. 2024

Eur J Hum Genet

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Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy

Crisafulli,

Grattarola,

Bottoni

et al. 2024

IJERPH

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Facioscapulohumeral dystrophy (FSHD) leads to progressive changes in body composition such as loss of muscle mass and increase in adiposity. In healthy subjects, anthropometric parameters are associated with the maximum volume of oxygen consumed per minute (VO2max), which is a health and function indicator in several populations of subjects, both healthy and pathological. Since VO2max can be difficult to test in patients with FSHD due to exercise intolerance, the identification of associated anthropometric parameters could provide new easily obtainable elements for the patients’ clinical stratification. The aim of this study was to evaluate whether anthropometric and body composition parameters are associated with VO2max in patients with FSHD. A total of 22 subjects with a molecular genetics-based diagnosis of FSHD (6 females, 16 males, mean age of 35.18 years) were recruited for the study. VO2max was measured by cardiopulmonary exercise tests (CPETs) on a cycle ergometer, utilizing a step incremental technique (15 Watts (W) every 30 s). Weight (Kg) and height (m) were obtained and utilized to calculate body mass index (BMI). Body composition parameters (fat mass (FM), fat free mass (FFM), and body cell mass (BCM)) were obtained by bioelectrical impedance analysis (BIA). Significant negative associations were found between VO2max and FM (Spearman correlation coefficient (SCC) −0.712), BMI (SCC −0.673), age (SCC −0.480), and weight (SCC −0.634), unlike FFM and BCM. Our results indicate that FM, BMI, age, and body weight are negatively associated with VO2max in patients with FSHD. This evidence may help practitioners to better stratify patients with FSHD.

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Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders

Megalizzi,

Trastulli,

Colantoni

et al. 2024

IJMS

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Rare diseases are heterogeneous diseases characterized by various symptoms and signs. Due to the low prevalence of such conditions (less than 1 in 2000 people), medical expertise is limited, knowledge is poor and patients’ care provided by medical centers is inadequate. An accurate diagnosis is frequently challenging and ongoing research is also insufficient, thus complicating the understanding of the natural progression of the rarest disorders. This review aims at presenting the multimodal approach supported by the integration of multiple analyses and disciplines as a valuable solution to clarify complex genotype–phenotype correlations and promote an in-depth examination of rare disorders. Taking into account the literature from large-scale population studies and ongoing technological advancement, this review described some examples to show how a multi-skilled team can improve the complex diagnosis of rare diseases. In this regard, Facio-Scapulo-Humeral muscular Dystrophy (FSHD) represents a valuable example where a multimodal approach is essential for a more accurate and precise diagnosis, as well as for enhancing the management of patients and their families. Given their heterogeneity and complexity, rare diseases call for a distinctive multidisciplinary approach to enable diagnosis and clinical follow-up.

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French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

Cited by 3 publications

References 182 publications

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders

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