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Birth Defects and Hereditary Diseases Topics..

You are here : home > Birth Defects and Hereditary Diseases > Types of Birth Disorders > What are Degenerative Disorders?

What are Degenerative Disorders?


Degenerative disorders are one of the types of birth defects or hereditary disorders affecting children. Find information on some of the forms of degenerative disorders right here.
Degenerative disorders are a type of functional birth defect but there is one significant difference. Many disorders that fall into this category are not visible at birth; as the baby grows, some particular body systems are affected and the child begins to suffer from major health problems. As the name indicates, degenerative disorders only get worse with time; unfortunately, there is no permanent cure and children who suffer from such disorders need constant care.
Some of the most common degenerative disorders encountered in babies include lysosomal disorders, Rett syndrome, muscular dystrophy and X-linked adrenoleukodystrophy. Here is some basic information about each of these disorders.

Lysosomal Disorders

Lysosomes are organelles present in each cell and these contain enzymes that help to digest substances within the cell. When some of these enzymes are absent, the cell cannot get rid of glycosaminoglycans – a set of complex carbohydrates. This leads to dysfunction of the cells, leading to the disorder called lysosomal storage disease (LSD) of which there can be at least 50 different types. LSD is a degenerative disease and may affect different organs and organ systems such as the heart, kidneys, lungs, joints, skin and also the nervous system.
LSD can be diagnosed by a careful examination of the symptoms. Specialized tests may also be performed to detect levels of particular enzymes and often, it takes long to arrive at the final diagnosis. Some types of lysosomal disease can be treated with transplantation of bone marrow and enzyme replacement therapy. Unfortunately, there is still no cure for most forms of LSD and treatment focuses on addressing the presenting symptoms.

Muscular Dystrophy

Muscular dystrophy (MD) is a condition in which the muscles grow weak and degenerate over time. Over 30 types of muscular dystrophy have been identified such a Duchenne MD, Becker MD, Emery Dreifuss MD and limb girdle MD. Depending on which set of muscles is affected and when, the disease may manifest during infancy, childhood or in middle age. The affected individual’s muscles grow progressively weaker and eventually, the person is unable to walk and has severely restricted movements.
Muscular dystrophy can be diagnosed by some enzyme tests or genetic tests; in some cases a muscle biopsy may also be used. Sadly, there is no cure yet for this condition and surgery, medication, physical therapy and the use of certain devices are the only way to manage.

Rett Syndrome

A rare genetic condition that mostly affects girls, Rett syndrome is often confused with autism because the symptoms follow a similar pattern. This syndrome develops after about 3 months of the child’s birth and a baby who was developing normally suddenly shows signs of degeneration such as loss of the ability to grasp objects by the hand, breathing problems, inability to balance and in an older child, behavioural and intellectual problems, too. Rett syndrome is caused by defective chromosomes and can be identified by a genetic test on a blood sample along with an examination of the symptoms. No treatment exists for this condition and the affected child will need physical and speech therapy as well as constant care.

X-Linked Adrenoleukodystrophy

The nerves in our brain and spinal cord relay a lot of information; these nerves are insulated by a fatty covering called the myelin sheath. If there is a damage of this myelin (a condition called demyelination) the nerves lose their ability to transmit information. This is the condition called X-linked adrenoleukodystrophy – a genetic disorder the mostly occurs in boys. The nervous system as well as the adrenal glands situated above the kidneys is affected and this can lead to changes in the skin, loss of weight, severe weakness, intellectual and behavioural problems and may end in coma.
This condition can be diagnosed from an MRI scan; measuring the plasma concentration of very long chain fatty acids is also useful. The results of these tests along with an examination of the clinical symptoms can help to make a definitive diagnosis. While there is no cure for X-linked adrenoleukodystrophy, the symptoms can be managed with medication, physical therapy and support from the family; bone marrow transplantation may help in some cases, but it is a risky procedure.
Most degenerative disorders appear after childbirth and cannot be diagnosed when the baby is still inside the womb. Besides, some of them become obvious only after a few months to a few years; unfortunately, they progress quite rapidly and although they may not be fatal, these degenerative disorders can severely limit the quality of life of the affected child.

What are the causes of degenerative disorders? How to prevent degenerative disorders? Which tests are carried out to diagnose degenerative disorders? Discuss here.



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