Pathological conditions and symptoms associated with membrane repair pathways
Duchenne and Becker MD result from loss of muscle mass. Duchenne MD is also associated with increased risk of heart and respiratory failure, while Becker MD patients develop symptoms slower than Duchenne MD. LGMD (LGMD1 and LGMD2) manifests in the proximal muscles around the hips and shoulders. Miyoshi myopathy manifests in distal muscles, mainly in legs. Inflammatory myopathy is associated with weakness in the large muscles around the neck, shoulders, and hips. Two types of inflammatory myopathy are polymyositis and dermatomyositis that cause lung inflammation. Acute brain injury can lead to chronic and progressive neurodegeneration such as Parkinson’s disease and Alzheimer’s disease. Defects in membrane repair contribute to different cardiac and lung diseases.