What are the treatment options for Limb Girdle Muscular Dystrophies (LGMD), Facioscapulohumeral Muscular Dystrophy (FSHD), Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD)?

From the Guidelines

Treatment for muscular dystrophies, including limb girdle muscular dystrophies (LGMD), facioscapulohumeral muscular dystrophy (FSHD), and Duchenne and Becker muscular dystrophies, focuses on managing symptoms and slowing disease progression, with the most recent and highest quality study 1 guiding the approach to respiratory care in Duchenne muscular dystrophy. For Duchenne muscular dystrophy, corticosteroids like prednisone or deflazacort are the mainstay of treatment, typically started when patients show functional decline but are still ambulatory, as supported by earlier studies 1. These medications slow disease progression by reducing inflammation and may extend walking ability by 2-3 years. Newer approved therapies include eteplirsen for specific genetic mutations, and viltolarsen and golodirsen for exon 53 skipping. Cardiac involvement requires ACE inhibitors like enalapril or lisinopril, often started prophylactically around age 10, as discussed in the context of cardiac care in muscular dystrophies 1. For all muscular dystrophies, comprehensive care includes:

• Physical therapy to maintain muscle function and prevent contractures
• Respiratory support with non-invasive ventilation when needed
• Orthopedic interventions for scoliosis or contractures Genetic counseling is essential for families. LGMD and FSHD currently have no disease-modifying medications approved, though clinical trials are ongoing, with a focus on supportive care, including physical therapy, occupational therapy, and assistive devices to maintain independence, as these approaches help manage symptoms while research continues toward more effective treatments targeting the underlying genetic causes of these disorders. The most recent guidelines for respiratory care in Duchenne muscular dystrophy 1 emphasize the importance of early intervention and a multidisciplinary approach to manage respiratory complications and improve quality of life.

From the Research

Treatment of Limb Girdle Muscular Dystrophies, Facioscapulohumeral Muscular Dystrophy, Duchenne and Becker Muscular Dystrophy

• The treatment of muscular dystrophies, including limb girdle muscular dystrophies, facioscapulohumeral muscular dystrophy, Duchenne and Becker muscular dystrophy, has been discussed in several studies 2, 3, 4, 5, 6.
• According to a study published in 2013, researchers hope to help patients with future discoveries effective in slowing or halting disease progression, reversing or preventing underlying mechanisms, and repairing previously damaged muscle 3.
• A study published in 2016 reported that diagnostic and treatment guidelines have recently been published for limb-girdle muscular dystrophies, and the first medication for treatment of patients with a subset of Duchenne muscular dystrophy has been approved by the US Food and Drug Administration (FDA) 4.
• Resistance exercise training has been shown to be effective in improving strength and functional tasks in adults with limb-girdle, Becker, and facioscapulohumeral dystrophies, with a 12-week resistance training programme resulting in increased knee flexion strength and improvements in functional tasks 5.
• A case report published in 2025 highlighted the importance of clinical suspicion and timely diagnosis of autosomal recessive limb-girdle muscular dystrophy-10, a progressive disease with total loss of ambulation between the fourth and the sixth decade of life 6.

Current Research and Findings

• The studies suggest that a combination of clinical and molecular genetic evaluations may be sufficient for accurate diagnosis of limb-girdle muscular dystrophies in many cases, but the contribution of imaging and histopathologic correlations still remains a critical component of evaluation in some cases 4.
• The use of next-generation sequencing has heralded an era of molecular diagnosis in conjunction with physical characterization, but has also led to the identification of variants of unknown significance in most patients 4.
• The publication of diagnostic and treatment guidelines for Duchenne muscular dystrophy and limb-girdle muscular dystrophies has provided a framework for the management of these disorders 3, 4.

Implications for Treatment

• The findings of these studies have implications for the treatment of limb girdle muscular dystrophies, facioscapulohumeral muscular dystrophy, Duchenne and Becker muscular dystrophy, and highlight the need for a multidisciplinary approach to management, including resistance exercise training and molecular diagnosis 3, 4, 5.