G: MT 22-Tay-Sachs d. -A. Spond.-Tourette's- Wolf Hirschhorn

• Genetic Disorder: Occurs when a mutation affects the genes
• Three types of genetic disorders:

  • Chromosomal
  • Complex or multifactorial
  • Single-gene or monogenic
• Trisomy: Defined as the presence of an extra chromosome, or three instead of the usual pair
• Most common trisomy anomalies:

  • Trisomy 13: Patau Syndrome
  • Trisomy 18: Edward Syndrome
  • Trisomy 21: Down Syndrome
• Mosaic Trisomy 22:

  • Rare chromosomal anomaly syndrome
  • Three copies of chromosome are present
  • Frequent cause of spontaneous abortion during the first trimester of pregnancy
  • Progression to the second trimester and live birth is rare
• Mosaic Trisomy 22 Symptoms:

  • Hemiatrophy
  • Webbed neck
  • Ocular and cutaneous pigmentary anomalies
  • Craniofacial dysmorphic features
  • Microcephaly
  • Upslanted palpebral fissures
  • Ptosis
  • Ear malformations
  • Flat nasal bridge
  • Micrognathia
• Mosaic Trisomy 22 Symptoms (cont.):

  • Cardiac abnormalities
  • Ventricular and atrial septal defects
  • Pulmonary or aortic stenosis
  • Hearing loss
  • Limb malformation
  • Cubitus valgus
  • Syndactyly and brachydactyly
  • Renal and genital anomalies
• Noninvasive Prenatal Testing (NIPT) test:

  • Uses a pregnant woman’s blood to detect congenital abnormalities in the DNA of the fetus
  • Examines DNA for genetic conditions and can detect the sex of the fetus
  • Does not diagnose conditions, but indicates the likelihood of a condition existing
  • Can be done beginning at 10 weeks of pregnancy
• Tay-Sachs Disease:

  • Rare and fatal genetic disorder affecting the nervous system
  • Caused by a mutation in the HEXA gene leading to a buildup of GM2 ganglioside in the brain
• Tay-Sachs Disease Symptoms:

  • Children usually die by age 5
  • Symptoms include stopping smiling, crawling, turning over, difficulty swallowing, seizures, and more
• Tay-Sachs Disease Causes:

  • Autosomal recessive disorder
  • Child must inherit faulty HEXA genes from both parents to have the disease
• Tay-Sachs Disease Treatment:

  • Currently no cure or effective treatment
  • Some treatments may ease symptoms
• Ankylosing Spondylitis:

  • Type of arthritis mainly affecting the spine
  • Begins before the age of 40
  • Affects males more often than females
• Ankylosing Spondylitis Symptoms:

  • Stiffness in back, neck, or buttocks
  • Joint pain
  • Pain in tendons and ligaments
  • Symptoms typically last longer than 3 months and improve with physical activity
• Controlling Inflammation:

  • Managing symptoms (pain and stiffness)
  • Improving physical functioning
  • Preventing progressive damage to bones
• Tourette Syndrome:

  • Neurological disorder causing involuntary movements that are hard to control
• Types of Tics in Tourette Syndrome:

  • Motor tics
  • Vocal tics
• Tourette Syndrome Symptoms:

  • Tics such as eye blinking, shoulder shrugging, facial grimacing, vocal sounds, and more
• Tourette Syndrome Causes:

  • Genetic and environmental factors
  • Mutations involving the SLITRK1 gene
• Tourette Syndrome Treatment:

  • No cure
  • Treatment focuses on managing symptoms and supporting development
• Wolf-Hirschhorn Syndrome:

  • Rare genetic disorder caused by a missing piece of genetic material on chromosome 4
• Wolf-Hirschhorn Syndrome Symptoms:

  • Facial features like wide-set eyes, growth problems, seizures, heart defects, and other health issues
• Wolf-Hirschhorn Syndrome Diagnosis:

  • Diagnosed by chromosomal analysis before or after birth
• Wolf-Hirschhorn Syndrome Treatment:

  • No cure
  • Treatment focuses on managing symptoms and supporting development