Aging disoder and orthopedics disorders
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Progeria is an extremely rare genetic condition where children age rapidly, experiencing many signs of aging at a very early age. It affects about 1 in 4-8 million births. The main symptoms include baldness, wrinkled skin, joint stiffness, loss of body fat and muscle, and cardiovascular problems. Average life expectancy is 13 years. While there is no cure, treatments can help manage symptoms and slow progression, such as low-dose aspirin, physical therapy, and lifestyle modifications. Progeria is caused by a genetic mutation and provides insight into normal human aging processes.
Aging disoder and orthopedics disorders
- 3. Many persons believe that they lived an unhappy childhood.
- 4. Our childhood was stolen. We’ve grown up before our times. We've been deprived of our childhood.
- 6. What is Progeria? • Progeria is an extremely rare, fatal genetic condition that affects children and gives them an appearance of accelerated aging. • The word Progeria comes from the Greek rogeros meaning 'prematurely old'. • It was first described in an academic journal by Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897 - both in England. • The condition was later named Hutchinson-Gilford Progeria Syndrome (HGPS).
- 7. • It is currently hypothesized to result from a gene mutation arising around the time of conception or shortly thereafter. • Although the term progeria applies to all diseases characterized by premature aging symptoms, it is often applied specifically in reference to Hutchinson-Gilford Progeria Syndrome. • Progeria disease provides medical researchers a window to better understand how the body works and to explain some of the mysteries of the aging process. What is Progeria?
- 8. Prevalence • Progeria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). • HGPS prevalence is reported to be 1 in 8 million births. • The true prevalence, however, has been suggested to be closer to 1 in 4 million births because many cases likely go undiagnosed or are misdiagnosed.
- 9. • Progeria affects all races with about 97% of the children affected being Caucasian. • Also, it affects both sexes almost equally with slight male predilection; the male-to-female ratio is 1.5:1. • In the past 15 years, children with Progeria have been reported all over the world. Prevalence
- 10. Fig : Distribution of children with progeria around the world
- 11. Fertility • In general, people with progeria have such severe failure to thrive (poor growth from the time of childhood) that it prevents fertility. • The absence of complete sexual maturation has been considered characteristic of the syndrome. • However sexual maturity is rare in these patients.
- 12. Prognosis • As there is no known cure, the average life expectancy for a patient with HGPS is 13 years, with an age range of 7-27 years. • At least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke. • Mental development is not adversely affected; in fact, intelligence tends to be above average.
- 13. • With respect to the features of aging that progeria appears to manifest, the development of symptoms is comparable to aging at a rate eight to ten times faster than normal. • With respect to features of aging that progeria does not exhibit, patients show no neurodegeneration or cancer predisposition. • They also do not develop the so-called "wear and tear" conditions commonly associated with aging, such as cataracts (caused by UV exposure) and osteoarthritis (caused by mechanical wear). Prognosis
- 14. Symptoms • Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. • The children have a remarkably similar appearance, despite differing ethnic backgrounds. • Most of the following features are manifested after the age of three years in children with Hutchinson-Gilford progeria syndrome:
- 15. • Baldness • Pinched nose • Small, wrinkled face • Head large for the size of the face • Loss of eyebrows and eyelashes • Prominent scalp veins • Delayed tooth formation • Loss of muscles and body fat • Bulging eyes • Wrinkled, scaly, dry skin • High pitched voice • Short stature • Stiffness in joints • Progressive cardiovascular diseases • Progressive atherosclerosis Symptoms
- 16. Fig: Dutch Patient at the age of 1 year, 1 year, 2 years, 6 years, 7 years, 8 years, 10 years, and 12 years.
- 17. Treatments • There's no cure for progeria. • Regular monitoring for cardiovascular disease may help with managing the child's condition. • Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease.
- 18. • Certain therapies may ease or delay some of the signs and symptoms. They include: • Low-dose aspirin. A daily dose may help prevent heart attacks and stroke. • Other medications. Depending on the child's condition, doctor may prescribe other medications, anticoagulants to help prevent blood clots. The use of growth hormone may help increase height and weight. Treatments
- 19. • Physical and occupational therapy. These may help with joint stiffness and hip problems and may allow the child to remain active. • Extraction of primary teeth. Extraction may help prevent problems associated with the delayed loss of baby teeth. Treatments
- 20. Lifestyle and Home Remedies• Some steps you can take at home that may help progeria child include: • Make sure the child stays well hydrated. Dehydration can be more serious in children with progeria. Be sure the child gets enough to drink, especially during an illness or in hot weather. • Provide frequent, small meals. Because nutrition and growth can be an issue for children with progeria, giving the child smaller meals more often may help to increase his or her caloric intake.
- 21. • Provide opportunities for regular physical activity. Check with the child's doctor to learn which activities are right for the child. • Get cushioned shoes or shoe inserts for the child. The loss of body fat in the feet can cause discomfort. Lifestyle and Home Remedies
- 22. • Make sure the child is up to date on childhood immunizations. A child with progeria isn't at increased risk of infection, but like all children is at risk if exposed to infectious diseases. • Provide learning opportunities. Progeria won't affect the child's intellect, so he or she can attend school at an age- appropriate level. Lifestyle and Home Remedies
- 23. ORTHOPEDICS • Specialty of medicine that deals with diseases and injuries of the locomotor system • Literally means “straight children”
- 25. CLUB FOOT
- 26. DEFINITION Club Foot is a complex deformity of foot, result of complicated inter- relationships between bone ligaments and muscles.
- 27. CAUSES Defective gene – Hereditary Excessive pressure of amniotic fluid Uterine compression Arrested fetal development Circulatory failure Irradiation (maternal)
- 28. MEDICAL MANAGEMENT 1. CORRECTION a) Stretching and casting (PONSETI METHOD)
- 29. b) Stretching and Taping ( French Method)
- 30. c) Dennis - Brown Brace
- 31. SURGERY
- 33. DEFINITION Juvenile rheumatoid arthritis ( JRA) is a chronic systemic inflammatory disease involving connective tissue of one or more joints.
- 34. SIGNS 1. Involvement of both small and large joints 2. Joints are tender, swollen and warm 3. Reduced mobility 4. Prolonged fever 5. Muscle aches
- 35. SIGNS 6. Weight loss 7. Subcutaneous nodules 8. Hepatosplenomegaly 9.Pericarditis, myocarditis 10. Pneumonia
- 36. HIP DISPLACEMENT
- 38. DEFINITION Hip displacement is referred to a condition in which the femoral head and the acetabulum are improperly aligned in which the ball of the femur is outside the hip socket.
- 39. SIGNS Laxity of ligaments Asymmetry of gluteal fold Limited ROM Apparent shorter femur on affected side
- 40. SIGNS Variation in gait Extra fold at thighs and groins Difference in length of limbs Wading gait
- 42. 2. SKIN TRACTION
- 44. FRACTURES
- 45. DEFINITION A fracture is defined as a break in the continuity of a bone. This can occur either in the long bones as is most common or in flat bones such as skulls or pelvis.
- 47. SIGNS Pain Pallor Paralysis Generalized Swelling Bruising Tenderness Deformity Severe muscle rigidity
- 48. MEDICAL MANAGEMENT 1. CLOSED REDUCTION
- 50. 3. TRACTION
- 51. KYPHOSIS
- 52. DEFINITION It is the deformity of the spine. The term kyphosis refers to an enhanced angulations in the thoracic or thoraco-lumbar spine in the sagittal plane or a round back deformity.
- 53. CAUSES It can develop due to defective posture. Rickets May be congenital or secondary to compression fracture. Malignancy Juvenile Rheumatoid Arthritis
- 54. MEDICAL MANAGEMENT Orthotic devices Orthopedic surgery Pre and post operative care Psychological support
- 55. SCOLIOSIS
- 56. DEFINITION It is a lateral or side curvature of spine due to abnormality in alignment of spine. Scoliosis develops two curves – one is original abnormal curve and second a compensatory curve in the opposite direction.
- 57. CAUSES Idiopathic Defective embryonic development of the spine. Neuromuscular paralysis Cerebral palsy Post polio Rickets Fractures Disease of hip and spine.
- 58. SIGNS Leg length discrepancy Shoulder asymmetry in breast size Uneven waist line Scapular prominence Bone pain Poor posture
- 59. MEDICAL MANAGEMENT Orthotic devices Surgery Pre and post op casting Psychological support Health education Exercise Counseling of parents
- 60. BOW LEG (Genu Varum) the term bow leg refers lateral angulation of knee joints because of inward deviation of longitudinal axis of tibia and femur.
- 62. MEDICAL MANAGEMENT Early detection of condition. Orthopedic intervention Surgical corrections
- 63. KNOCK KNEE ( Genu Valgum) Knock knee is abnormal convergent of knee with divergent ankles. This occurs due to outward deviation of longitudinal axis of both tibia and femur
- 64. CAUSES Pathological : rickets, JRA. Cerebral palsy Fractures Neoplastic disease
- 65. MEDICAL MANAGEMENT Early detection Orthopedic intervention Correction using orthopedic devices.
- 66. POLYDACTYL It is defined as an extra finger or toe. Usually occurs at metatarsophalangeal joints of little finger or thumb.
- 67. CAUSES Carpenter syndrome Trisomy 13 Mekhel gruber syndrome Isolated trait
- 68. SYNDACTYL It is fusion of digits and toes.
- 69. CAUSES Isolated trait Compound of certain syndrome a) carpenter syndrome b) trisomy 21, 13 & 18