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Muscular Dystrophy: Causes, Symptoms, and Diagnoses

Muscular dystrophy is a group of diseases that cause muscle wasting and loss of muscle function. This article discusses the most common form, Duchenne's muscular dystrophy, as well as other musculoskeletal conditions such as acute osteomyelitis, osteoporosis, osteomalacia and rickets, osteoarthritis, rheumatoid arthritis, and talipes equinovarus. Learn about their causes, clinical manifestations, diagnostic tools, and more.

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Muscular Dystrophy: Causes, Symptoms, and Diagnoses

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  1. Chapter 8 The Musculoskeletal System Muscular Dystrophy It refers to a variety of diseases characterized by wasting of the muscles. Muscle cells die and are phagocytized by cells of the inflammatory system, leading to scaring and loss of muscle function. The most common form of muscular dystrophy is Duchenne's muscular dystrophy, a sex-linked disorder passed on the X chromosome and seen almost exclusively in males. In approximately 50% of cases, the disease shows a clear family history and is passed from mother to son.

  2. Clinical Manifestations of Duchenne's Muscular Dystrophy - Waddling gait, and frequent falls in toddlers. - Walking on toes because of anterior tibial weakness. - Decreased deep tendon reflexes. - Pseudohypertrophy of the calf muscles. - Gowers' maneuver, whereby the child uses his arms to push up onto his legs when standing up from the floor, is seen during the toddler years.

  3. - Immobility and confinement to a wheelchair by the early teens. - Curvature of the spine (kyphoscoliosis) caused by weakness of the postural muscles. - Frequent respiratory infections from failure to fully expand the lungs.

  4. Diagnostic Tools - Serum levels of the muscle enzyme creatinine phosphokinase (CPK) are elevated. - Muscle biopsy will demonstrate cell death, scar tissue, and fatty infiltration. - Electromyography recordings (measurements of electrical signals in a muscle) will be reduced.

  5. Acute Osteomyelitis Osteomyelitis is an acute infection of the bone that may occur in two froms: 1-Hematogenous osteomyelitis :blood-borne infection 2-Exogenous osteomyelitis after contamination of an open fracture or surgical reduction.

  6. Clinical Manifestations -In children may include fever, chills, and a reluctance to move a particular limb. -In adults, symptoms may be vague and include fever, fatigue, and malaise. -A urinary, respiratory tract, ear, or skin infection frequently precedes hematogenous osteomyelitis. -Exogenous osteomyelitis typically presents with evidence of injury and inflammation at the site of pain. Fever and regional lymph node enlargement occur.

  7. Osteoporosis Is a metabolic bone disease characterized by a severe reduction in bone density, leading to easy bone fracture. Osteoporosis occurs when the rate of bone resorption greatly exceeds the rate of bone formation. Causes of Osteoporosis The rate of bone formation decreases progressively with age, beginning at approximately age 30 or 40. The denser the bones are before that time, the less likely osteoporosis will occur. As people age into their 70s and 80s, osteoporosis becomes a common disease.

  8. Osteomalacia and Rickets Osteomalacia is a metabolic bone disease seen in adults. It is caused by decreased mineralization of the osteoid as a result of a deficiency of calcium, phosphate, or from a vitamin D deficiency or from renal disease. Rickets is a bone disease in children caused by vitamin D deficiency.

  9. Clinical Manifestations - Osteomalacia may be symptomless until a fracture occurs. Vertebral collapse is common, with associated changes in posture and height. - Rickets is characterized by permanent skeletal deformity, including bowed legs, lumbar lordosis, and rib and skull deformity. Inability to to walk without support and may also show poor dentition. Diagnostic Tools - Radiograph evaluation can demonstrate reduced bone ossification. - Measurements of serum calcium and phosphate will be low in severe cases.

  10. Osteoarthritis Is a degenerative bone disease characterized by loss of articular (joint) cartilage. Without cartilage buffering, the underlying bone is irritated, leading to degeneration of the joint. CLinical Manifestations - Pain and stiffness in one or more of the joints, commonly the hands, wrists, feet, knees, upper and lower spine, hips, and shoulders. Pain may be associated with tingling or numbness, especially at night. - Swelling of the affected joints, with a decreased range of motion. Joints may appear deformed.

  11. Rheumatoid Arthritis (RA) is a chronic, inflammatory disease that causes degeneration of connective tissue ,first is the synovial membrane and spreads to the surrounding structures of the joint, including the articular cartilage and the fibrous joint capsule. Eventually, the ligaments and tendons become inflamed. Clinical Manifestations - Onset of RA is characterized by general symptoms of inflammation, including fever, fatigue, body aches, and joint swelling. Joint tenderness and stiffness develop. - Decreased range of motion, joint deformity and muscular contractions.

  12. TalipesEquinovarus Talipesequinovarus, also called clubfoot, is a congenital abnormality characterized by deformity of the bones and soft tissue of the foot. The front portion of the foot is turned in whereas the rear of the foot is inverted.

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