American Medical Association Family Medical Guide - American Medical Association [676]
NF2 causes progressive hearing loss, beginning during adolescence, as tumors grow around the nerves involved with hearing. A person with NF2 also may have ringing in the ears (tinnitus; see page 1020), problems with balance, skin growths, and vision problems caused by thickening of the lens of the eye. Tumors in the head can cause headaches, numbness, and pain in the face. In rare, severe cases, brain tumors caused by NF2 can be fatal.
Diagnosis
If a doctor knows that one of a child’s parents or another family member has neurofibromatosis, he or she can sometimes test for the disorder in the fetus before birth (prenatal testing; see page 954). To diagnose the disorder in a child who develops the symptoms of either type of neurofibromatosis after birth, a doctor may order X-rays, an eye examination, vision and hearing tests, or a CT scan (see page 112) or MRI (see page 113) of the brain. The results of these tests and a physical examination, along with the child’s family health history, can confirm or rule out a diagnosis of neurofibromatosis.
Treatment
If your child has been diagnosed with neurofibromatosis, he or she should have regular checkups and examinations to monitor the progression of the disorder and treat any new symptoms. For disfiguring or painful tumors under the skin, a doctor may recommend removing them surgically, although the tumors may grow back. Tumors that affect hearing or vision may require treatment to preserve these senses.
Bone deformities such as scoliosis (see page 433) can be treated with surgery, a brace, or both. In the rare cases in which the brain or spinal cord tumors become cancerous, doctors recommend surgery along with radiation therapy (see page 23) and chemotherapy (see page 23).
Huntington Disease
Huntington disease is a devastating, degenerative brain disorder caused by a dominant genetic defect that destroys cells in a part of the brain called the basal ganglia, which slowly destroys a person’s ability to think, walk, and talk. The onset of the degenerative process usually begins between ages 30 and 50, but it occasionally develops in young children and in the elderly.
Huntington disease affects people of both sexes and all races throughout the world. Because symptoms usually do not appear until middle age, many people are not aware they have the gene until after they have children (who have a 50 percent chance of also having the gene). A test is available that can identify people who have the Huntington gene. If the disease has occurred in a member of your family, including in cousins, aunts, or uncles, and you are considering having the test or are unsure what to do, a genetic counselor (see page 952) can help you evaluate your risk of having the gene and can explain the risks and benefits of testing.
Symptoms
The symptoms of Huntington disease vary widely from person to person, even in the same family. Early symptoms can include emotional problems such as depression, mood swings, irritability, and anxiety. Behavioral changes can include aggressive outbursts, impulsiveness, demanding behavior, and withdrawal from friends and family. Sexual desire may be absent or exaggerated. As the disease progresses, a person becomes increasingly less able to concentrate and his or her short-term memory declines. Physical symptoms begin as nervous twitching, fidgeting, or restlessness. The person’s handwriting may change, and he or she may be less able to perform skills that require coordination and concentration, such as driving. Over time, the person will develop more noticeable involuntary movements of his or her head, trunk, and limbs. The person slowly loses the ability to walk, speak, and swallow. Eventually, he or she can no longer function independently and dies from complications such as choking, infection, or heart failure.