Aging Disorder

Many persons believe that they

lived an unhappy childhood.

Our childhood was stolen.

We’ve grown up before

our times.

We've been deprived of

our childhood.

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).

• 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?

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.

• 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

Fig : Distribution of children with progeria around the world

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.

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.

• 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

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:

• 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

Fig: Dutch Patient at the age of 1 year, 1 year, 2 years, 6 years, 7 years, 8

years, 10 years, and 12 years.

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.

• 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

• 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

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.

• 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

• 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

ORTHOPEDICS

• Specialty of medicine that deals with

diseases and injuries of the locomotor

system

• Literally means “straight children”

ORTHOPEDICS DISORDERS

CLUB FOOT

DEFINITION

Club Foot is a complex deformity of foot, result of

complicated inter- relationships between bone

ligaments and muscles.

CAUSES

Defective gene – Hereditary

Excessive pressure of amniotic fluid

Uterine compression

Arrested fetal development

Circulatory failure

Irradiation (maternal)

MEDICAL MANAGEMENT

1. CORRECTION

a) Stretching and casting (PONSETI METHOD)

b) Stretching and Taping ( French Method)

c) Dennis - Brown Brace

SURGERY

DEFINITION

Juvenile rheumatoid arthritis ( JRA) is a chronic

systemic inflammatory disease involving connective

tissue of one or more joints.

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

SIGNS

6. Weight loss

7. Subcutaneous nodules

8. Hepatosplenomegaly

9.Pericarditis, myocarditis

10. Pneumonia

HIP DISPLACEMENT

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.

SIGNS

Laxity of ligaments

Asymmetry of gluteal fold

Limited ROM

Apparent shorter femur on affected side

SIGNS

Variation in gait

Extra fold at thighs and groins

Difference in length of limbs

Wading gait

MEDICAL MANAGEMENT

Pavlik harness

2. SKIN TRACTION

3. SURGERY AND CAST

FRACTURES

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.

SIGNS

Pain

Pallor

Paralysis

Generalized Swelling

Bruising

Tenderness

Deformity

Severe muscle rigidity

MEDICAL MANAGEMENT

1. CLOSED REDUCTION

2. OPEN REDUCTION

3. TRACTION

KYPHOSIS

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.

CAUSES

It can develop due to defective posture.

Rickets

May be congenital or secondary to

compression fracture.

Malignancy

Juvenile Rheumatoid Arthritis

MEDICAL MANAGEMENT

Orthotic devices

Orthopedic surgery

Pre and post operative care

Psychological support

SCOLIOSIS

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.

CAUSES

Idiopathic

Defective embryonic development of the spine.

Neuromuscular paralysis

Cerebral palsy

Post polio

Rickets

Fractures

Disease of hip and spine.

SIGNS

Leg length discrepancy

Shoulder asymmetry in breast size

Uneven waist line

Scapular prominence

Bone pain

Poor posture

MEDICAL MANAGEMENT

Orthotic devices

Surgery

Pre and post op casting

Psychological support

Health education

Exercise

Counseling of parents

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.

CAUSES

Rickets

Traumatic

Developmental anomalies

Physiological

MEDICAL MANAGEMENT

Early detection of condition.

Orthopedic intervention

Surgical corrections

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

CAUSES

Pathological : rickets, JRA.

Cerebral palsy

Fractures

Neoplastic disease

MEDICAL MANAGEMENT

Early detection

Orthopedic intervention

Correction using orthopedic devices.

POLYDACTYLIt is defined as an extra finger or toe.

Usually occurs at metatarsophalangeal joints of little

finger or thumb.

CAUSES

Carpenter syndrome

Trisomy 13

Mekhel gruber syndrome

Isolated trait

SYNDACTYLIt is fusion of digits and toes.

CAUSES

Isolated trait

Compound of certain syndrome

a) carpenter syndrome

b) trisomy 21, 13 & 18