Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-02-01 DOI:10.1016/j.nmd.2025.105274

Sanne C․C․ Vincenten , Sjan Teeselink , Karlien Mul , Linda Heskamp , Hermien E․ Kan , Arend Heerschap , Donnie Cameron , Giorgio Tasca , Doris G․ Leung , Nicol C․ Voermans , Baziel G․M․ van Engelen , Nens van Alfen

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引用次数: 0

Abstract

Clinical trial readiness is an important topic in the field of facioscapulohumeral muscular dystrophy (FSHD). As FSHD is a slowly progressive and clinically heterogeneous disease, imaging biomarkers have been proposed to complement clinical outcome measures. Muscle magnetic resonance imaging (MRI), ultrasound and dual energy X-ray absorptiometry (DEXA) have been used to measure disease severity, activity and progression. We conducted a scoping review of the literature on these imaging modalities to assess gaps in knowledge and subsequently collaborated with a panel of neuromuscular imaging experts to generate recommendations on the road ahead. We systematically searched PubMed, EMBASE and Cochrane Library databases. Three-hundred and twenty-eight studies were screened and one hundred and five studies were included. MRI indices related to intramuscular fat content, STIR positivity and T2_water are used as diagnostic as well as prognostic and monitoring biomarkers. Ultrasound echogenicity can be used as a diagnostic and potentially as a prognostic and monitoring biomarker. DEXA lean muscle mass may be used as an additional monitoring biomarker. Each imaging modality has its own benefits but also challenges. Based on our expert opinions, we propose a roadmap to address these challenges, ensuring the optimal use of each modality in multi-center clinical trials in FSHD.

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.