E: HUNTINGTON’S - USHER - WILSON’S - GAUCHER- CYSTC FIBROSIS

• Huntington's Disease:

  • A neurodegenerative disorder that causes the progressive breakdown of nerve cells in the brain, especially damage in the basal ganglia
  • Most people develop signs and symptoms in their 30s or 40s
  • Onset before age 20 is called juvenile Huntington's Disease
  • Causes movement, cognitive, and psychiatric disorders with a wide spectrum of signs and symptoms
• Huntington's Disease Movement Disorder:

  • Involuntary jerking or writhing movement
  • Muscle problems such as rigidity or muscle contracture (dystonia)
  • Slow or abnormal eye movements
  • Impaired gait, posture, and balance
• Huntington's Disease Cognitive Disorder:

  • Difficulty in focusing on tasks
  • Lack of flexibility
  • Lack of awareness of one's own behavior
  • Slowness in processing thoughts or "finding words"
• Huntington's Disease Psychiatric Disorder:

  • Depression
  • Feeling of irritability
  • Social withdrawal
  • Insomnia
  • Fatigue and loss of energy
• Usher Syndrome:

  • Genetic condition leading to hearing loss and vision loss
  • Some people also experience balance problems
  • Diagnosed usually during childhood
• Wilson's Disease:

  • Rare inherited condition causing copper levels to build up in several organs, especially the liver, brain, and eyes
  • Symptoms appear when copper levels build up in the brain, liver, eyes, or other organs
  • Symptoms include fluid buildup, speech problems, depression, insomnia, muscle stiffness, fatigue, loss of appetite, and jaundice
• Gaucher's Disease:

  • Inherited lysosomal storage disorder caused by the GBA gene
  • Fatty substances build up in bone marrow, liver, and spleen
  • Affects spleen, liver, blood, and bones
  • Treatable but no cure
  • Different types with varying signs and symptoms
• Cystic Fibrosis Disease:

  • Inherited genetic disorder where a person must inherit 2 defective genes, 1 from each parent
  • Diagnosis usually by age 2
  • Causes abnormally thick sticky mucus that damages lungs, digestive tract, and other organs
  • Symptoms include delayed growth, salty-tasting skin, nasal congestion, fatigue, and repeated episodes of pneumonia
• Diagnostic Tests:

  • Blood tests
  • Immunoreactive trypsinogen (IRT)
  • Sweat chloride test
• Treatment for Wilson's Disease:

  • Medications to remove copper from the body
  • Zinc to prevent copper absorption
  • Low copper diet
• Treatment for Gaucher's Disease:

  • Enzyme replacement therapy (ERT) every two weeks
  • Substrate reduction therapy (SRT) orally
  • Regular therapy for Type 1, no treatment for neurological damage in Types 2 and 3
• Treatment for Cystic Fibrosis Disease:

  • Medications such as bronchodilators, antibiotics, and mucolytics
  • Pancreatic enzymes with food
  • Chest physiotherapy