Common Inherited Disorders
|Disease Name||X-linked?||Biological Systems Affected||Clinical Outcome||Recommended By|
|Neurologic, Cognitive||Metabolic, Endrocrine||Circulatory, Respiratory||Skin, Bones, Muscle||Shortened life expectancy||Treatments Available||ACMG||ACOG||Victor Center|
|Duchenne and Becker muscular dystrophy|
|Sickle cell anemia|
|Spinal muscular atrophy|
|Tay Sachs Disease|
Our Basic panel tests for six high impact genetic conditions that are relatively common in the general population. These include: spinal muscular atrophy, Duchenne muscular dystrophy, cystic fibrosis, Tay-Sachs disease, sickle cell anemia, and beta thalassemia.
Spinal muscular atrophy (SMA) is a genetic condition that primarily affects muscle control. There are four types of SMA, which differ from each other in severity and age of onset. The primary symptoms of SMA are muscle weakness and motor difficulties, while severe forms can cause difficulty breathing and swallowing. The disease affects approximately 1 in 8,000 live births but currently has no cure. Research for treatment options is ongoing for this life-threatening disease.
Duchenne muscular dystrophy (DMD) is an X-linked condition that causes wasting of the skeletal and cardiac muscles. It is estimated that about 1 in 4,000 newborn males worldwide are born with this disease. The symptoms are present in early childhood and tend to progress quickly, with few individuals surviving past 30 years. There is presently no cure for DMD, though some drugs can help improve quality of life.
Cystic fibrosis (CF) is a genetic disorder occurring in about 1 in 3,000 white newborns in the United States. The disease affects many organs in the body, where buildup of thick mucus can cause breathing difficulty, digestive problems, and frequent bacterial infections. Drugs are available to manage some of these symptoms, but patients have drastically shortened lifespans. Extensive research in CF treatments is promising, with many therapies in clinical trials.
Tay-Sachs disease (TSD) is a very rare progressive disorder of the central nervous system that begins in infancy and can be fatal by early childhood. Affected children can have loss of coordination, vision, and hearing. Individuals of Ashkenazi Jewish heritage are at a significantly increased risk of TSD; in this population it occurs in approximately 1 in 4,000 births compared to 1 in 320,000 worldwide.
Sickle cell disease (SCD) is a blood disorder in which the red blood cells that carry oxygen throughout the body become abnormally shaped and dysfunctional. It is the most common blood disorder in the United States, affecting about 1 in 75,000 individuals. African-Americans are at an increased risk; the disease occurs at an incidence of 1 in 500 in this population. Most individuals with the disease do not live beyond 50 years. Bone marrow transplant, which is a highly risky and complicated procedure, is the only potential cure for this disease.
Beta thalassemia is a relatively common blood disorder that causes anemia, a low number of red blood cells. The severity of the disease is highly variable, ranging from mild anemia to heart failure. Treatment and life expectancy is largely dependent on severity of the disease. Patients with severe forms of beta thalassemia are often dependent on consistent blood transfusions.