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Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy
Volker Straub1, Amanda R Clause2, Sandra Donkervoort3
1John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom.
Neurology
|October 28, 2025
Summary
Accurate diagnosis of limb-girdle muscular dystrophy (LGMD) is challenging due to its diversity. This expert consensus provides an efficient diagnostic approach using genetic and supportive tests to guide treatment.
Area of Science:
- Neurology
- Genetics
- Clinical Diagnostics
Background:
- Limb-girdle muscular dystrophy (LGMD) encompasses over 30 genetic forms, presenting diagnostic challenges despite advances.
- Accurate genetic diagnosis is crucial for managing LGMD complications, including extramuscular manifestations.
- Rapid genetic testing evolution necessitates updated clinician training and education.
Purpose of the Study:
- To establish an expert consensus for an efficient diagnostic strategy for limb-girdle muscular dystrophy.
- To empower clinicians with effective utilization of genetic and supportive diagnostic tests.
- To facilitate precise diagnosis and guide treatment decisions for LGMD patients.
Main Methods:
- Expert consensus development on diagnostic approaches.
- Discussion of informed selection and interpretation of gene panels.
- Integration of genome/exome sequencing, biochemical, imaging, pathology, and electromyography tests.
Main Results:
- An efficient diagnostic pathway for LGMD is proposed.
- Guidance is provided on selecting and interpreting genetic tests, including comprehensive sequencing.
- The role of various supportive tests in confirming diagnosis and guiding management is outlined.
Conclusions:
- Genetic testing is essential for confirming LGMD diagnoses and informing treatment strategies.
- A structured diagnostic approach improves the management of diverse LGMD forms.
- Empowering clinicians with updated knowledge ensures optimal patient care and outcomes.
