Neurofibromatosis

Neurofibromatosis (NF) is a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities. NF is often diagnosed in childhood, occasionally in infancy (in children with severe cases), but usually around 3-16 years of age. Effects of the disease vary widely — some children live almost unaffected by the condition; rarely, others might be severely disabled. There's no specific cure for NF, but tumors usually can be r

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Neurocutaneous Syndromes

Neurocutaneous syndromes are disorders that lead to abnormal growth of tumors in various parts of the body. They're caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body (including the nervous system) and by certain differences in the skin. While some can be diagnosed at birth, others don't produce symptoms until later in life. Although neurocutaneous syndromes cannot b

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Muscular Dystrophy

Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's muscles. It's caused by incorrect or missing genetic information that prevents the body from making the proteins needed to build and maintain healthy muscles. A child who is diagnosed with MD gradually loses the ability to do things like walk, sit upright, breathe easily, and move the arms and hands. This increasing weakness can lead to other health problems. There

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Tay-Sachs Disease

Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth. But a baby with Tay-Sachs disease is born without one of those important enzymes, Hexosaminidase A (Hex A). So, as those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development. A child can only get Tay-Sachs by

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