Overview
Genetic disorders are conditions caused by abnormalities in an individual’s DNA. These disorders can be inherited
from
parents or occur as a result of mutations during development.
Genetic disorders may affect various parts of the body, leading to a wide range of symptoms and complications.
Some genetic conditions are present at birth, while others may manifest later in life. Early diagnosis and
personalised
treatment are key to managing genetic disorders and improving overall quality of life.
Symptoms
Symptoms may be mild, severe, or progressive, depending on the type of genetic disorder.
The symptoms of genetic disorders can vary greatly depending on the specific condition but may include:
- Developmental delays or intellectual disabilities
- Physical abnormalities such as unusual facial features, malformations of organs or limbs, or growth issues
- Chronic medical issues like heart problems, kidney disease or vision/hearing loss
- Neurological symptoms such as seizures, muscle weakness or coordination problems
- Skin conditions or discolouration
- Short stature or growth retardation
- Frequent infections or immunodeficiencies in some conditions
Diagnosis
The diagnosis of genetic disorders typically involves a medical history, physical examination, genetic testing,
screening, imaging tests and carrier screening.
Treatment
Treatment will depend on the specific condition, the severity of symptoms and the overall health of the individual.
Treatment options may include:
- Genetic counselling
- Medications
- Enzyme replacement therapy
- Gene therapy
- Surgery
- Physiotherapy and occupational therapy
- Nutritional support
- Stem cell therapy
- Symptom management
