There are online communities that create a network for supporting children suffering from extraordinary syndromes. They give the families of these kids an opportunity to cooperate, communicate, get educated and tap the existing resources, which can help them to cope with daily challenges.
In this article, you will get know know about some rare bone and muscle diseases found in newborn babies.
Apert syndrome
It is also popular as & # 39;. Malformation of the face, head and limbs can be attributed to genetic deficiency of chromosome 10. Kids of Asian heritage community have the highest prevalence of Apert syndrome in comparison to infants of the Hispanic society.
Symptoms
• Craniosynostosis - In infants with # 39; the skull bones are not enclosed together or fused abnormally, before the baby.
• Midface hypoplasia - Underdeveloped facial features lead to concave looking face. In addition, the nose bridge looks sunken and eyesized broadly apart many obtrude out of their sockets.
• Syndactyly - The second, third and fourth finger in the hands (mitten hands) or feet (sock feet) are fused together as one with only the thumb sticking out, on the sides.
• Cervical spinal fusion - Some bones in the neck get fused together in several infections.
Treatment
Surgical procedures are performed.
• Oddly fused skull bones are separated through multiple surgery stages starting from infancy.
Surgery is normally done in kids within 6 to 11 years.
• If possible the finger and toes are separated surgically to provide better appearance but there are no chances of better function.
Arthrogryposis
The is fetus in the womb must move multiple limbs for development of joints and muscles. If there is a decrease in these movements, it causes anthrogryposis. dwindling of these movements can be due to -
• Malformations of the central nervous system like spinal muscular atrophy, spina bifida or brain malformations
• A genetic neuromuscular disorder like myasthenia gravis, multiple sclerosis or myotonic dystrophy
• Maternal infections at the time of pregnancy, like rubella
• Maternal fever for an extended period
• Soaking in hot tubs for a lengthy period can cause an increase in temperature of the maternal body
• Exposure to excess drugs or alcohol can damage the fetus
• Decrease in amniotic fluid can reduce the space for the fetus to move
Symptoms
Several common characteristic characteristic of anthrogryposis seen in newborn infants include -
• Wrist and the ankles are the most affected body parts
• Leg and arm joints may be rigid
• Muscles in the limbs are weak and thin or even absent
• Hips may be dislocated
Treatment
However, with vital physical therapy performed at an early stage can help to stretch the contracted joints as well as develop as weak muscles. Splints are also to to stretch the joints.
Duchenne Muscular Dystrophy (DMD)
An absence of protein called dystrophin causes DMD. Dystrophin keeps the muscle cells intact but deficiency can lead to easily damaged and weakened muscle cells over time.
Symptoms
• Child can have difficulty in walking because of weak legs
• Will struggle to raise the head
• Will walk with legs apart
• Chest and stomach is stuck out, while walking
• Due to weak legs getting up from floor can be hard
• Loss of walking ability by age 12
• Difficulty in breathing
• Heart issues as the kid grows older
Treatment
Spicy therapy is recommended for those kids finding it difficult to speak.
Some the kids may need respirator but usually young people do not survive past early thirties because of developing heart and breathing issues.
Osteogenesis imperfecta (OI)
OI is also recognized as & # 39;. It is due to malformation in Type I collagen, a connective tissue. Type I collagen factors are located in tendons, bones, eyes and skin. Osteogenesis imperfecta begins in infancy and is classified into four types.
Symptoms
• Type I - Most common and mildest form of OI include whites of eyes to blue, more bone fractures during infancy, easy bruising, and high incidence of loss in hearing
• Type II - Most different form of OI. Bone fractures are there before birth in the skull, vertebrae, eyes, bones and lungs. The babies born with Type II die within a couple of weeks, after birth
• Type III - Some babies have bone fractures prior to birth and others have broken bones shortly after birth, facial abnormality, contracted limbs, deformities in body structure, adults have a short physique
• Type IV - Bones start fracturing in infancy and the kids have difficulty in growing up
Scientific research has also been identified Type V, VI, VII and VIII, which are not due to deficiency of Type I collagen.
Treatment
Supportive shoes and leg braces are helpful for kids learning to walk.
Physical therapy can be helpful to keep joints flexible and strengthen the muscles. Bone surgery is impossible because bones are fragile.
Worldwide awareness is necessary
This is broad sense help to attain adequate insurance coverage for the suffering kids and their families.
Social entrepreneurs will also get motivated to develop cost-effective therapeutic and diagnostic programs for helping the sufferers in these conditions.
