Ataxia describes lack of muscle coordination while performing voluntary movements. A sign of an underlying condition, ataxia can affect any part of your body.
Cerebral palsy — Comprehensive overview covers symptoms, causes and treatment of this movement disorder.
Charcot-Marie-Tooth disease includes a group of disorders that affect the peripheral nerves, causing muscle weakness and loss of muscle bulk. Treatment focuses on managing symptoms.
Congenital adrenal hyperplasia is a genetic condition affecting the adrenal glands and interfering with normal growth and development in boys and girls.
Craniosynostosis is a birth defect in which one or more of the bony plates of a baby's skull fuse prematurely, misshaping the head.
Diabetes insipidus is a rare condition characterized by intense thirst and the excretion of large amounts of urine.
Klinefelter syndrome is a genetic disorder that affects hormone levels in males. Discover what causes it — and what treatments are available.
Krabbe disease is a rare, inherited disorder — most often affecting infants — that impairs functioning of the central nervous system and usually leads to early death.
Marfan syndrome, a connective tissue disorder, can affect almost any part of your body, including your heart, eyes and ligaments.
In myelofibrosis, healthy bone marrow is replaced with scar tissue, leading to severe anemia and fatigue.
Noonan syndrome is caused by a mutation in one of the genes responsible for normal development in many parts of the body, including the heart.
Polycythemia vera is a rare blood disorder in which a person's bone marrow makes too many blood cells.
Prader-Willi syndrome, a genetic disorder characterized by decreased muscle tone and a constant desire to eat, often leads to morbid obesity.
If you've had a miscarriage and want to get pregnant again, you might have questions. Find out more about pregnancy after miscarriage.
High blood pressure affecting only the arteries in your lungs is known as pulmonary hypertension. Discover the symptoms, risk factors and treatment for this condition.
Stickler syndrome can affect multiple parts of your body, including your eyes, face, ears, bones and joints.
Thalassemia is an inherited blood disorder, characterized by less hemoglobin and fewer red blood cells than normal. When necessary, treatment includes blood transfusions.
July 19, 2013
- Handbook — Help me understand genetics. Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/. Accessed May 7, 2013.
- Frequently asked questions about genetic testing. National Human Genome Research Institute. http://www.genome.gov/19516567. Accessed May 7, 2013.
- Raby BA, et al. Genetic counseling and testing. http://www.uptodate.com/home. Accessed May 8, 2013.
- Grody WW, et al. ACMG position statement on prenatal/preconception expanded carrier screening. American College of Medical Genetics and Genomics. Genetics in Medicine. In press. Accessed May 8, 2013.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. May 10, 2013.