Choose the content to read
- What are common genetic disorders?
- What are the causes of genetic disorders?
- What are the benefits of genetic testing?
- What are the treatment modalities for genetic disorders?
- Is it possible to prevent a genetic disorder?
- A note from MedPark's doctor
What are Genetic Disorders?
Genetic diseases are due to mutations in genes or chromosomal alterations. Our genomes consist of genetic materials, or DNA (deoxyribonucleic acid), which holds the instructions for protein synthesis that determine cell functions and the characteristics of living organisms. We inherit DNA from both parents; hence we can inherit mutated genes from them. Some genetic diseases may manifest symptoms at birth, while others may develop symptoms later in life.
What are the types of genetic disorders?
- Monogenic disorders are secondary to a mutation in one specific gene.
- Multifactorial disorders are due to multigene mutations and environmental factors such as dietary choices, certain medications, chemical exposure, smoking, and alcohol consumption.
- Chromosomal disorders from missing or extrachromosomal materials.
What are common genetic disorders?
-
Monogenic disorders
- Congenital deafness
- Duchenne muscular dystrophy
- Familial hypercholesterolemia
- Hemochromatosis (iron overload)
- Neurofibromatosis type 1 (NF1)
- Sickle cell disease
- Tay-Sachs disease
-
Multifactorial disorders
- Late-onset Alzheimer's disease
- Arthritis
- Most cases of autism spectrum disorder
- Many types of cancer
- Coronary artery disease
- Diabetes
- Migraine headaches
- Spina bifida
- Isolated congenital heart defects
-
Chromosomal disorders
- Down syndrome (Trisomy 21)
- Fragile X syndrome
- Klinefelter syndrome
- Triple-X syndrome
- Turner syndrome
- Trisomy 18
- Trisomy 13
Moreover, there are around 7,000 rare genetic disorders. Around 200,000 people in the US are affected by AA amyloidosis, Adrenoleukodystrophy (ALD), Ehlers-Danlos syndrome, Mitochondrial diseases, and Usher syndrome.
What are the causes of genetic disorders?
Genetic diseases result from alterations in the genes providing blueprints for protein synthesis. These proteins regulate the complex cellular processes essential for bodily functions. Gene mutations affect the codes for making these proteins, resulting in missing or producing dysfunctional proteins.
Certain factors can trigger genetic mutations, including exposure to chemicals, radiation, and tobacco smoke.
What are the symptoms of genetic disorders?
Symptoms vary among patients based on severity and affected organs, with some presenting at birth and others developing later.
Symptoms of genetic disorders include:
- Neurological and Cognitive System
- Behavioral changes or disturbances
- Cognitive deficits (difficulty processing information)
- Seizures or increased risk of stroke
- Developmental delays, particularly in speech and social skills
- Physical Characteristics
- Limb or facial anomalies (e.g., missing fingers, cleft lip/palate)
- Poor growth or short stature
- Distinctive facial features
- Sensory Impairments
- Vision loss or impairment
- Hearing difficulty
- Motor Function
- Movement disorders
- Muscle stiffness or weakness
- Respiratory System
- Breathing difficulties
- Gastrointestinal Tract
- Difficulty swallowing, eating, and digesting, leading to inadequate nutrient intake.
What are the benefits of genetic testing?
- Genetic counseling is crucial for individuals with a family history of genetic diseases who are considering genetic testing. It facilitates understanding the disease risk and offers guidance on managing and treating symptoms effectively.
- Genetic testing identifies abnormal genes linked to genetic diseases, informs individual risks, and guides treatment selection. Those with a family history of genetic diseases who are planning to have children should undergo chromosomal or genetic testing.
What are the types of genetic testing?
- Carrier testing is a blood test to determine if someone carries abnormal genes associated with genetic diseases. It is suitable for everyone planning to marry, regardless of a family history of genetic diseases.
- Prenatal screening is a blood test to assess the risk of chromosomal abnormalities or certain genetic conditions in the fetus during pregnancy.
- Prenatal diagnosis is the testing of fetal cells in the amniotic fluid to identify genetic disease risks of the fetus.
- Newborn screening is a standard test to ensure timely treatment for newborns.
What are the procedures for genetic testing?
- Seek genetic counseling.
- Assess risk by conducting a physical examination and taking a family history.
- Select the appropriate testing method for the genetic disorder.
- Collect samples, such as blood, for genetic analysis.
- Receive test results and counseling if abnormalities are detected.
What are the treatment modalities for genetic disorders?
While curing genetic diseases remains challenging, patients can receive treatment to manage symptoms, slow disease progression, and improve daily life quality. The focus is on symptom management and enhancing quality of life.
- Symptom-managing medications
- Nutritional guidance and supplementation
- Rehabilitative therapies, including physical, occupational, and speech therapy
- Blood transfusions
- Corrective surgeries
- Chemotherapy
- Radiation therapy
- Organ transplantation in severe cases
Is it possible to prevent a genetic disorder?
Preventing a genetic disorder is often not possible. However, genetic counseling and testing can help you understand your risk and the likelihood of passing certain disorders to your children.
What is the prognosis for people with genetic disorders?
The severity of genetic disorders varies widely. Anencephaly can be life-threatening, while isolated cleft lips may not affect lifespan but might need treatment for comfort and quality of life.
Living with a genetic disorder
Living with a genetic disorder presents significant challenges, yet with attentive care and emotional support, patients can achieve fulfilling and high-quality lives. Effective collaboration among patients, families, and healthcare providers is essential for devising suitable life strategies. These involve modifying daily routines and dietary habits and staying updated on the latest research and treatment options. Open communication and emotional expression with loved ones are crucial for promoting mental well-being and mutual understanding, empowering patients to navigate daily life with resilience.
A note from MedPark's doctor
Genetic disorders arise from alterations of the genes or chromosomes. Understanding the nature of genetic disorders and receiving appropriate treatment are essential steps in managing these conditions effectively, allowing patients to lead happy and fulfilling lives.
