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Neuromuscular Disease

What Pulmonologists Need to Know About Respiratory Insufficiency in Neuromuscular Disease
 What Pulmonologists Need to Know About Respiratory Insufficiency in Neuromuscular Disease 600 400 Katie Brind'Amour, PhD, MS, CHES
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The RIND Study Group has released new consensus criteria to proactively identify hypoventilation in children with neuromuscular diseases. Recently released consensus criteria from an expert panel of pediatric pulmonologists and sleep specialists define and provide diagnosis guidance surrounding respiratory insufficiency in neuromuscular disease (RIND). The results from the 15-member RIND Study Group’s Delphi study, published…

Clinical Trial Shows Promising Results for AAV Gene Therapy for LGMD 2E/R4
 Clinical Trial Shows Promising Results for AAV Gene Therapy for LGMD 2E/R4 1024 783 Abbie Miller
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Recently published in Nature Medicine, interim results from a Phase 1/2 trial offer promising results.   Limb-girdle muscular dystrophy (LGMD) 2E/R4 is a rare, progressive neuromuscular disorder caused by mutations in the β-sarcoglycan (SGCB) gene. These mutations lead to SGCB protein deficiency, ultimately resulting in muscle loss. Progressive, debilitating weakness and wasting begin in the…

Neurorehabilitation for Children With Batten Disease
 Neurorehabilitation for Children With Batten Disease 1024 683 Lauren Dembeck
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Therapy should be tailored to each child’s needs. Batten disease comprises a rare group of related genetic disorders characterized by progressive neurodegeneration. The disease primarily presents in childhood as seizures, vision loss, and developmental regression. Neurorehabilitation services, including physical therapy (PT), occupational therapy (OT), and speech-language pathology therapy (SLP), can delay loss of function and…