American Medical Association Family Medical Guide - American Medical Association [677]
Diagnosis
To diagnose Huntington disease, doctors take a detailed family health history and perform comprehensive physical, neurological, and psychological examinations. A doctor also may recommend an MRI (see page 113) or CT scan (see page 112) of the brain. A genetic test to detect the Huntington gene may be done to help confirm or rule out the disease.
Treatment
Huntington disease has no cure. Available treatments do not stop the progression of the disease, but medication can help treat symptoms such as depression and anxiety and help reduce involuntary movements. Doctors try to minimize the use of drugs because they can have side effects, and drugs that are effective at one stage of the disease may not be effective at another.
If you have Huntington disease, work with a neurologist who is familiar with the disease and a team of health care professionals such as occupational therapists and speech therapists, who can help you maintain your quality of life. Because people with Huntington disease burn more calories than normal and can have difficulty chewing and swallowing, they need to work with a nutritionist to avoid losing too much weight. Maintaining weight and muscle can help reduce involuntary movements and other symptoms. Support groups are valuable sources of emotional support and shared knowledge for people with Huntington disease and their families.
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of inherited disorders that result from genetic defects that affect connective tissue, the tissue that gives support and strength to other tissues. The six major types of Ehlers-Danlos syndrome are distinct disorders with distinctive symptoms, but most are characterized by problems with the skin and joints. Although a person is born with the Ehlers-Danlos gene, the disorder may not become apparent until later in life or after exposure to an environmental stress such as surgery or an injury. If you or a family member has the disorder, talk to a genetic counselor (see page 952) about the risk of passing the defective gene on to a child.
Symptoms
Because Ehlers-Danlos syndrome can result from mutations in several different genes, the symptoms vary widely from one form of the disorder to another. Generally, people with Ehlers-Danlos syndrome have some degree of joint looseness, abnormal scar formation, slow healing of wounds, and fragile, small blood vessels (which can cause easy bruising). The looseness in the joints may make them prone to dislocation and chronic pain. The skin can be soft and velvety and stretch more than usual (but return to normal after being pulled). Some forms of Ehlers-Danlos syndrome can cause problems with the spine, such as curving, or with the eyes, such as an abnormally shaped cornea (the clear, protective covering at the front of the eye). The uterus, intestines, and large blood vessels may be weak and susceptible to rupture.
Diagnosis
Doctors diagnose Ehlers-Danlos syndrome from a physical examination, a person’s health history, and his or her family health history. Some forms of Ehlers-Danlos syndrome are diagnosed from laboratory analysis of a sample of skin (biopsy) to determine the chemical makeup of the connective tissue. For some forms of Ehlers-Danlos syndrome, genetic testing (see page 953) is available to confirm the diagnosis.
Treatment
The treatment of Ehlers-Danlos syndrome depends on the symptoms. If you have loose joints, your doctor may recommend avoiding activities that can make your joints lock or overextend or increase the wear and tear on them, increasing your risk of developing osteoarthritis (see page 996) at a younger age than usual. Activities you might be asked to avoid include gymnastics, ballet, figure skating, long-distance running, and competitive sports involving running. Your doctor may recommend a brace to stabilize your joints.
In some people, surgery is necessary to repair damaged joints. Your doctor may refer you to a physical or occupational therapist, who can help you strengthen your muscles and teach you how to use and protect