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Scoliosis

Scoliosis refers to an abnormal curving of the spine. While everyone has a natural curve to the spine, scoliosis indicates an unnatural curve. When the spine appears to bend forward, it is known as Kyphosis. When the spine appears to bend backward, it is referred to as Lordosis. In scoliosis, the person develops additional curve and the bones of the spine twist on each other.


Infantile Scoliosis: Noticed in children 3 years and younger.

Juvenile Scoliosis: Noticed in children from 4 to 10 years.

Adolescent Scoliosis: Noticed in children from 11 to 18 years.

Congenital Scoliosis: This is present from birth and is a result of improper formation of the baby's ribs and spine.

Neuromuscular Scoliosis: Medical conditions like cerebral palsy, muscular dystrophy, spina bifida, and polio lead to this kind of scoliosis. Abnormal development of spinal bones can also lead to this type of scoliosis.

Functional Scoliosis is caused by an abnormality located elsewhere in the body, such as difference in leg length.


Symptoms of Scoliosis

The person has a noticeable pelvic tilt and one shoulder might be higher than the other. Backache or lower back pain is felt. Sometimes the unnatural curve of the spine makes it difficult for the proper functioning of the heart and lungs. This can result in chest pain and shortness of breath.

Diagnosis tests such as spinal curve measurement, x-ray, CT scan and MRI of the spine are undertaken to check for structural and temporary spinal curve. A neurological examination of the patient is also done to check for muscle weakness, numbness and abnormal reflexes.


Treating Scoliosis

Treatment for scoliosis depends on the nature and degree of curvature as well as age of the patient. Infantile idiopathic scoliosis often improves without treatment. Juvenile scoliosis is often the kind that gets worse over time. A brace is often suggested to prevent worsening of the spinal curve. This is ideal when the patient is still growing and the curve is moderate. Low profile brace or Thoracolumbosacral Orthosis TLSO is one that is contoured to the body shape. It is worn under the clothes and fits under the arms and around the rib cage and back and hips. This works best for curvature of the upper spine.

Milwaukee Brace is a full-torso brace that is worn when the condition is more severe and has a neck ring for resting the chin and back of the head. Schroth Exercises are often recommended to help the patient deal with the condition. It encompasses a set of stretching, breathing and strengthening exercises that can be incorporated into your daily lifestyle. Corrective surgery is done when scoliosis is getting severe. A metal rod might be inserted to fuse two or more bones.


Osteogenesis Imperfecta

Osteogenesis imperfecta or OI, also known as brittle bone disease, is a genetic disorder that is characterized by weak and fragile bones that break easily. Osteogenesis imperfecta is caused by a genetic defect that disables the body to make strong bones. A person may experience occasional fractures or may have multiple fractures throughout life depending upon the severity of Osteogenesis imperfecta present. Apart from fragile bones, people with OI suffer from teeth problems - Dentinogenesis Imperfecta, hearing loss, muscle weakness, loose joints (joint laxity) and skeletal malformations.


Causes of OI

Osteogenesis imperfecta is either inherited from a parent who has the defective gene or could be a result of new mutations. Due to the defective gene, an important protein substance called type I collagen is not produced in the body. This protein plays an important role in forming connective tissues in bones and also helps in forming ligaments, teeth and the white outer tissue of the eyeballs (sclera). Due to poor production of the protein, bones become brittle and fragile and tend to break easily. Most of the mutations in OI exist in the two type I collagen genes, COL1A1 and COL1A2 and account for almost all the forms of OI.


Classification of Osteogenesis imperfecta

Depending upon the severity of the Osteogenesis imperfecta, the condition is divided into type 1, type 2, type 3, type 4. These types are classified mostly by fracture frequency and by characteristic features. Recently, research has identified three more additional variations to Osteogenesis imperfecta known as type 5, 6 and 7.


Type 1

Type 1 Osteogenesis imperfecta is the mildest and the most common form of OI. More than 50% patients suffer from Type 1 Osteogenesis imperfecta. In this type, though body produces normal type I collagen but only half the normal quantity. People with Type 1 OI may experience fewer fractures, and most often the condition may go unnoticed for several years after their birth.


Type 2

Type 2 Is the most severe form of Osteogenesis imperfecta often resulting in bone deformities in the child. Type 2 OI normally turns out to be fatal with the production of very little or poor quality collagen being produced in the body. Infants with type 2 OI are born with fragile rib cage and underdeveloped lungs. They usually die either in the womb or soon after birth.


Type 3

Osteogenesis imperfecta type III is severely progressive type associated with symptoms like short stature, a triangular face, severe scoliosis, grayish sclera, and Dentinogenesis imperfecta (impaired and irregular teeth with yellow-blue tinge). Infants with type 3 OI have fractures at the time of birth itself, and few infants reveal a fractured and eventually healed bones in the womb itself.


Type 4

Type 4 Osteogenesis imperfecta can range from very mild to severe form often resulting in growth retardation in children. A child with type 4 OI is short with bow shaped legs. Symptoms like tinted sclerae (white of the eye) and dental deformities may also be present at the time of the birth. Child normally suffers from Long bone fractures, vertebral compression, scoliosis, and ligament laxity with type 4 OI.

Type 4 also has two sub types called type 5 and type 6 OI. Though clinically they resemble type 4, types 5 and 6 have unique patterns to the bones. Type 5 exhibits features like ossification of interosseous membrane of the forearm with radial head dislocation, large callus formation and an abnormal histopathological pattern. Type 6 will have elevated alkaline phosphatase and blue-white sclerae.


Diagnosis

Most severe forms are diagnosed before birth itself. Ultrasound scanning during second trimester may reveal deformity of limbs, abnormally short fetus, irregular skull shape, lack of mineralizations and narrow chest cavity. Few cases are diagnosed soon after the birth and mild type of OI is found out much later in life when such individuals suffer from repeated fractures. However, the following diagnostic methods are used to assess the condition.


  • Clinical examination, wherein history of frequent fractures with minimal trauma is noted

  • X-Ray

  • Genetic testing of a blood sample (DNA )

  • Skin biopsy to assess collagen production.

Treatment

Since Osteogenesis imperfecta is a genetic condition, it does not have a cure. Patient will be treated symptomatically and will be aided with external tools to provide maximum possible mobility. Efforts are also taken to improve muscle strength and boost the bone mass in the patient through physical therapy. Professionally designed exercise programmes are highly beneficial and play an important role in treating the patients suffering from OI. Patient may also be prescribed required nutritional supplements like calcium, and vitamin D along with physical therapy. Few suitable candidates are also treated with surgical procedure called intramedullary rod surgery wherein metal rods are inserted through the length of the long bones to support and strengthen them.


Of late, Bisphosphonates drugs are being used in treating Osteogenesis imperfecta. Bisphosphonates are used to decrease the amount of bone resorption. It also helps in preventing fractures and improve person's functional mobility. There is also research being done to understand the role of gene therapy in treating Osteogenesis imperfecta.


Prognosis

Prognosis of Osteogenesis imperfecta depends upon the severity of the conditions. Despite bone deformity, restricted activity, and short stature, often patients with OI lead productive and near to normal lives.


Terminologies :

  • Osteogenesis : Growing new bone
  • Osteocytes : Bone cells
  • Osteoblasts : Bone cells building new bone structure
  • Osteoclasts : Bone cells which scavange bone tissue


Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy or DMD is a genetic disorder and is considered to be the most severe type of muscle dystrophy disease. It is caused by defects in the gene coding for a protein called dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and damages the muscle fibres. Hence Duchenne patients progressively lose their physical functions before they succumb to the disease. Most Duchenne patients are boys and women are generally only the carriers of the mutated gene.


Symptoms of Duchenne muscular dystrophy

The symptoms typically appear before the age of 6. There is gradual decline in muscle strength and by the time they reach the age of 12, most patients use a wheel-chair. DMD is characterized by proximal muscle weakness, muscle loss at the pelvic region, and finally affecting the heart and lung muscles, leading to death. Some of the symptoms that parents start to notice in the children suffering Duchenne Muscular Dystrophy:


  • Difficulty in sitting and standing

  • Delayed motor milestones

  • Proximal muscle weakness

  • Frequent falls

  • Difficulty in climbing stairs

  • Difficulty in getting up from sitting to standing position

  • Respiratory and cardiac difficulties in Late teens and early twenties

  • Enlargement of calf muscles due to fat accumulation

Diagnosis and treatment

Initially, a blood test to assess Creatine Kinase is always ordered when Duchenne muscle dystrophy is suspected. Children with DMD always have very high level of creatine kinase (about 10-100 times normal). CK tends to leak out of damaged muscles and therefore leads to elevated blood levels. Once the blood test reveals elevated levels of creative kinase, the condition is confirmed by further tests such as genetic tests or muscle biopsy. Muscle biopsy confirms the absence of dystrophin protein and hence the DMD condition. In addition, structural soft-tissue contracture and spinal deformities may develop due to progressive muscle weakness and imbalance.


As of now, there is no cure for Duchenne Muscular Dystrophy. The condition requires a multi-disciplinary approach in managing the symptoms. Medical care includes Corticosteroid treatment, physiotherapy, rehabilitative interventions, non-invasive ventilatory support, cardiac surveillance and prevention, and Scoliosis correction. These measures are undertaken to enhance the quality of life and longevity of the patient.

Though many improvements are taking place in palliative care, the area of terminal care has not met with much success yet. Duchenne Muscular Dystrophy patients do not normally survive beyond their late twenties. However, research and new approaches such as gene therapy could eventually be used to treat Duchenne Muscular Dystrophy. This therapy aims at correcting genetic mutations that causes the disease.


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Collection of Pages - Last revised Date: December 10, 2017