Diagnosis and Care Recommendations for Limb-Girdle Muscle Dystrophy 2I/R9 Presented

Draft standard of care (SoC) guidelines for the diagnosis and management of people with limb-girdle muscle dystrophy 2I/R9 (LGMDR9) were presented at the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference. According to the presenters of the draft SoC, the guidelines are intended to support the function and quality of life of people with LGMDR9, a progressive neuromuscular disease characterized by muscle weakness and wasting. LGMDR9 is caused by the functional impairment of the fukutin-related protein resulting from mutations in the FKRP gene.

The draft SoC guidelines were developed by a multinational group of healthcare professionals (HCPs) who also considered input from people with LGMDR9 and patient advocates. The recommendations cover a variety of topics regarding the diagnosis and care of LGMDR9.

According to the guidelines, the diagnosis of LGMDR9 should be based on:

• Clinical features and laboratory data, such as muscle weakness, gait changes, and hyperkalemia.
• Genetic testing for variants in the FKRP gene.
• Muscle MRI for changes in fat fraction and cross-sectional muscle area.
• Muscle biopsy for nonspecific dystrophic changes or myopathic pattern, inflammatory cell presence, or a reduction in a-dystroglycan glycosylation.

The care of people with LGMDR9 should include consideration of the following:

• Maintaining healthy weight and an active lifestyle.
• Maintaining respiratory and cardiovascular health.
• Incorporating physical and occupational therapy.
• Coordinating with surgical teams if necessary.
• Assessing and managing pain.
• Ensuring a healthy pregnancy for pregnant patients.
• Addressing psychosocial aspects of disease, including possible depression and anxiety.

The American Academy of Neurology’s (AAN’s) evidence-based guidelines for the diagnosis and treatment of limb-girdle and distal muscular dystrophies were published in 2014 and reaffirmed in 2022.