Advancing Care for Adults With Limb-Girdle Muscular Dystrophy: New Therapies and Insights
Podcast 2: Symptomatic and Investigational Therapies in the Management of LGMD
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A 52-year-old male is observed to be progressively slowing down with fatigue, which started in high school. Now in his 50s, he is unable to walk significant distances, play sports, or get up if he falls down without help. He has symmetric weakness in his proximal and distal upper extremities, a high creatine kinase (CK) level, and is unable to stand up straight. A muscle biopsy shows some myopathic changes. A magnetic resonance imaging (MRI) scan of the spine shows complete fatty replacement of paraspinous muscles with relative preservation of iliopsoas muscles. Pulmonary function tests (PFTs) were normal. She was diagnosed with LGMDR19/2T after genetic testing. What would you treatment include?
Intravenous immunoglobulin (IVIG)
Physical rehabilitation and therapy
Genetic counseling
Clinical trial
Which of the following is NOT an investigational therapy for LGMD?
FKRP gene modulator
LGMD vaccine
Ribitol
SGCB gene modulator
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