Adult onset metabolic/mitochondrial myopathies and dystrophies
Adult onset metabolic/mitochondrial myopathies and dystrophies
Adult onset metabolic/mitochondrial myopathies and dystrophies
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Genetic Myopathies: Diagnosis<br />
• History of weakness / wasting<br />
• Early life (FM, milestones, sport)<br />
• Later functional problems, use of aids<br />
• Whistling, dressing, back pain <strong>and</strong> lordosis<br />
• Pain<br />
• Persistent, exercise, myotonia<br />
• ROS<br />
• Cardiac (rhythm, c’myopathy) Respiratory<br />
• Other endocrine, bone, dementia, deafness<br />
• FH<br />
• Inheritance (AR, AD, X linked, Mt), penetrance<br />
• Consanguinity
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