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Muscle Disorders. Normal muscle. Duchenne’s Muscular Dystrophy. DMD. X-linked (males affected, female carriers) Early onset (around 4 yoa) Weakness Quadriceps and Gastrocnemius first followed by all proximal muscles Often swollen gastrocnemius region early in disease.
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DMD • X-linked (males affected, female carriers) • Early onset (around 4 yoa) • Weakness Quadriceps and Gastrocnemius first followed by all proximal muscles • Often swollen gastrocnemius region early in disease. • If untreated (respiratory support), usual age of death around 18 yoa
Trichinosis • 2 weeks after ingestion of contaminated food (pork). • Vomiting, diarrhea, fever, facial edema, myalgia, and proximal weakness. • Larvae encyst in skeletal muscle
Fibromyalgia • Body-wide pain and tenderness in joints, muscles, tendons, and other soft tissues. • Fatigue, sleep problems, head aches, depression, and anxiety. • Cause unknown: possible causes, physical or emotional trauma, abnormal pain response, sleep disturbances, infection.
Lou Gehrig’s Disease ALS: amyotrophic lateral sclerosis a: without myo: muscle Trophic: nourishment Lateral: side of spinal cord Sclerosis: hardening or scarring
Muscles have lost their nourishment. • Muscles become smaller and weaker • Diseased part of spinal cord (lateral) harden. • Damages motor neurons (connect to muscles). • Over time, motor neurons in the brain and spinal cord shrink and disappear, so that the muscles no longer receive signals to move. • Body becomes paralyzed.
Becker Muscular Dystrophy (BMD) • Insufficient production of dystrophin, a protein that helps keep muscle cells intact. • Occurs in adolescence or adulthood. • Weakness first affecting the muscles of the hips, pelvic area, thighs and shoulders. • Calves are often enlarged • Less severe than DMD. • X-linked recessive, affects males. Women are carriers.
Phosphorylase Deficiency • Interfere with the processing of carbohydrates for energy production, that’s needed for muscles to work. • Genetic defect in the phosphorylase enzyme, needed to breakdown glycogen (stored form of glucose). • Exercise intolerance, cramps, muscle pain and weakness shortly after beginning exercise. • Autosomal recessive.
Glogster Project Choose a disorder from the following types of muscle disorders: • Muscular dystrophies • Motor neuron diseases • Metabolic diseases of muscle • Diseases of peripheral nerve • Inflammatory myopathies • Diseases of the neuromuscular junction • Myopathies due to endocrine abnormalities.