Adult General Genetic Clinic

Adult genetic disorders are a group of medical conditions caused by changes or mutations in an individual’s DNA. These disorders can affect any part of the body and are usually very variable in severity. Some adult genetic disorders may be mild, while others can be extremely debilitating and life-threatening. For example, Huntington’s disease is a progressive and incurable genetic disorder that affects muscle coordination and cognitive function. It typically develops in adulthood and can lead to significant physical and mental disabilities. Cystic fibrosis is another genetic disorder with a wide spectrum of presentation that affects the respiratory and digestive systems, causing thick mucus to build up in the lungs and pancreas. While most cases are diagnosed at childhood, some milder forms may not be diagnosed until adulthood.

Many diseases have an underlying genetic cause. Hereditary disorders can be passed down from one generation to the next. Early detection and treatment can be crucial in managing these conditions and improving quality of life. If you suspect that you or a loved one may have an adult genetic disorder, it’s important to consult with a health care provider to refer you to the Mount Sinai Genetic Clinic for genetic counselling and testing.

Here is a list of the disorders that require genetic evaluation:

• Down syndrome and developmental delays
• Cystic fibrosis, pulmonary fibrosis
• Huntington’s disease, ataxia, and other movement disorders
• Some neuropathies and Charcot-Marie-Tooth disease
• Hemophilia and other blood disorders
• Turner syndrome, Klinefelter syndrome, Fragile X syndrome, and other chromosomal abnormalities
• Polycystic kidney disease and other abnormalities of the kidneys
• Metabolic disorders such as hemochromatosis and porphyria
• Clotting disorders