inherited disorders

• What are inherited disorders?

  Inherited disorders are medical conditions passed down from parents to children through genes.
• What causes inherited disorders?


  They are caused by changes or mutations in DNA sequences.
• How are inherited disorders transmitted?


  They are passed from parents to offspring through genes.
• What bodily functions can inherited disorders affect?


  They can affect various bodily functions.
• Can inherited disorders be present at birth?


  Yes, they may be present at birth or develop later in life.
• Give an example of an inherited disorder.


  Cystic fibrosis is an example of an inherited disorder.
• What are genetic inheritance patterns?


  They describe how traits or disorders are passed from parents to offspring.
• What are the main patterns of genetic inheritance?


  1. Autosomal dominant: One copy of the mutated gene causes the disorder.
  2. Autosomal recessive: Two copies of the mutated gene are needed.
  3. X-linked: The mutated gene is on the X chromosome, affecting males more often.
  4. Mitochondrial: Inherited only from the mother through mitochondrial DNA.
• If both parents are carriers of a recessive gene, what is the probability their child will have the disorder?


  25%
• What percentage of children will be carriers if both parents are carriers of a recessive gene?


  50%
• What are the types of inherited disorders?

  1. Single-gene disorders: Caused by mutations in one gene (e.g., cystic fibrosis).
  2. Chromosomal disorders: Result from abnormalities in chromosome structure or number (e.g., Down syndrome).
  3. Multifactorial disorders: Caused by a combination of genetic and environmental factors (e.g., diabetes).
  4. Mitochondrial disorders: Caused by mutations in mitochondrial DNA (e.g., Leber hereditary optic neuropathy).
• What is an example of a single-gene disorder?


  Cystic fibrosis is an example of a single-gene disorder.
• What is the purpose of genetic testing?


  It analyzes DNA for specific mutations.
• What are common methods for diagnosing inherited disorders?

  1. Genetic testing: Analyzes DNA for mutations.
  2. Prenatal screening: Tests for genetic disorders during pregnancy.
  3. Newborn screening: Checks for inherited disorders shortly after birth.
  4. Family history analysis: Examines patterns of inheritance.
  5. Physical examination: Looks for signs of genetic disorders.
  6. Biochemical tests: Measures levels of substances in blood or urine.
• What is the first step for a couple concerned about a genetic disorder in their family?


  Family history analysis would be the most appropriate starting point.
• What are the general approaches to treatment and management of inherited disorders?


  1. Symptom management: Treating specific symptoms.
  2. Supportive care: Assistance with daily activities.
  3. Medication: Managing symptoms or replacing missing enzymes.
  4. Gene therapy: Introducing functional genes (experimental).
  5. Dietary modifications: Adjusting diet for metabolic disorders.
  6. Physical therapy: Improving mobility and strength.
  7. Genetic counseling: Information and support for family planning.
• What treatment approach would be most beneficial for a patient with an inherited metabolic disorder affecting protein processing?


  Dietary modifications would be most beneficial.