For confirming a diagnosis of muscular dystrophy in suspected cases, molecular genetic testing is the primary method Zhang et al. 2019. Specifically, next-generation sequencing (NGS) is a recommended strategy for the diagnosis of dystrophinopathies Zhang et al. 2019. For facioscapulohumeral muscular dystrophy (FSHD), updated best practice guidelines outline the genetic diagnostic approaches Giardina et al. 2024. Accurate genetic diagnosis is fundamental, as it underpins the development of genetic-based treatment strategies for various muscular dystrophies Findlay & Weihl 2022. The provided UK guidelines do not contain specific recommendations for genetic tests to confirm muscular dystrophy diagnoses NICE CKS,NICE NG78,NICE NG97,NICE CKS,NICE CG71,NICE NG42.
Key References
- CKS - Multiple myeloma
- NG78 - Cystic fibrosis: diagnosis and management
- NG97 - Dementia: assessment, management and support for people living with dementia and their carers
- CKS - Pre-conception - advice and management
- CG71 - Familial hypercholesterolaemia: identification and management
- NG42 - Motor neurone disease: assessment and management
- (Zhang et al., 2019): Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing.
- (Findlay and Weihl, 2022): Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies.
- (Giardina et al., 2024): Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.