What is Huntington’s disease?
A: Huntington’s disease (HD) is a rare disorder that affects the brain. An inherited condition, HD causes the nerve cells in the brain that control memory and movement to progressively break down and die. The Genetic and Rare Diseases Information Center estimates that fewer than 5,000 people in the United States have HD.
HD is caused by a mutation in the gene that produces the protein huntingtin. A child of a parent who has HD has a 50% chance of inheriting the gene mutation. It is possible for HD to develop in people without a family history.
Symptoms can occur at any time, including in those younger than 20, but signs of HD often appear in people in their 30s and 40s. These symptoms may include depression, involuntary jerking movements, muscle rigidity, problems with speech or difficulty focusing on tasks.
There is no cure for HD, nor is there any way to prevent it.
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Treatment generally focuses on making symptoms tolerable, including drugs to control movement and manage emotions. Contact your health care provider if you experience symptoms related to HD, particularly if you have a family history.
Q: Why might a patient be placed in intensive care?
A: Intensive care units (ICUs) are sections in a hospital that provide specialized care and monitoring. They may also be referred to as critical care units or intensive care wards. Most of us are generally familiar with ICUs, whether from being in one or having experienced it with a family member or friend.
Patients admitted to an ICU have issues that can include needing support to breathe, a severe head injury, a serious short-term condition such as a heart attack, an infection such as pneumonia, or an extremely high or low pulse rate. Patients may also be in an ICU to recover from surgery.
ICU patients are monitored and treated with equipment such as catheters, feeding tubes, intravenous tubes for fluid or medications, an oscilloscope for heart rate, or ventilators.
Monitoring occurs more frequently in an ICU, with vital signs such as blood pressure, oxygen levels, heart rate and respiratory rate continuously displayed.
An ICU can be a stressful place for patients, family members and friends. Visitation may be limited to allow the patient to adequately rest and to prevent the spread of infection. Many facilities offer support services related to an ICU such as counseling — do not hesitate to ask the health care provider if you have questions.
Q: What is neurofibromatosis?
A: Neurofibromatosis (NF) is a term for three genetic disorders that cause tumors to grow on nerves in the body. These tumors can affect any part of the nervous system, including the brain and spinal cord.
The National Cancer Institute Division of Cancer Epidemiology & Genetics estimates that approximately 100,000 people in the U.S. are affected by neurofibromatosis type 1 (NF1) — the most common type.
NF can be inherited, but 30-50% of cases are from spontaneous gene mutation. The risk of developing NF is higher if a parent has the disorder. NF affects both sexes and all races.
Signs of NF may be present at birth or may develop between ages 3 and 5.
Symptoms of NF include flat brown spots on the skin, freckles in the armpits, loss of hearing or vision, learning difficulties or seizures. Cardiovascular conditions can result from NF, and those affected by the disorder are at higher risk of various cancers.
There is no cure for NF. Treatments include chemotherapy, medications to stop tumor cells from growing or the removal of tumors. Contact your health care provider if you experience symptoms and you have a family history of NF.
Q: How do you treat osteoporosis?
A: Osteoporosis is a disorder in which bones become weaker when the body makes too little or loses too much bone. When this occurs, bones are more likely to break. Osteoporosis can weaken bones so much that they may break during simple acts such as coughing or bumping into an object.
Women are affected by this condition more than men. The Centers for Disease Control and Prevention estimates that 20% percent of women age 50 and over have osteoporosis, compared with 5% percent of men in the same age bracket. White and Asian women who are past menopause have the highest risk for osteoporosis.
Many people do not realize they have the disorder until they break a bone. The early stages of bone loss often present no symptoms. As bones get weaker, symptoms may include lower back pain, a loss of height or the inability to stand up straight.
Certain medications may also contribute to bone loss.
Regular exercise, including weight training, can strengthen your bones as well as the muscles supporting them.
Vitamin and mineral supplements may be recommended, as well as medications specifically designed to treat osteoporosis. See your health care provider if you have questions.
Dr. Bala Simon is an associate professor in the Department of Family and Preventive Medicine in the College of Medicine at the University of Arkansas for Medical Sciences.