Flashcards in Genetics Deck (15):
How is Duchene Muscular Dystrophy passed on?
What are the features of Duchene Muscular Dystrophy?
Delay in motor development
Wheelchair bound by 10/12
Death in 20's due to cardio/respiratory muscle involvement
What gene is altered in Duchene Muscular Dystrophy?
What are two signs of Duchene Muscular Dystrophy?
What are investigations for Duchene Muscular Dystrophy?
Raised serum creatine kinase
Molecular genetic testing
How is Huntington's Disease passed on?
What is Huntington's Disease and when does it occur?
Progressive Neurodegenerative disorder and between 30-50 years
What are features of Huntington's Disease?
Severe dependancy and death over 15-20 years
What are early clinical signs for Huntington's Disease?
abnormal eye movements
What are later clinical signs for Huntington's Disease?
Dystonia, involunatary movements
slow voluntary movements
difficulty initiating movement
trouble with manual dexterity
What is bradykinesia?
Difficulty initiating and continuing movement
What is the genetic problem with Huntington's Disease?
The huntington gene,
CAG which codes for Glutamine
What is the pathology of Alzheimer Disease?
Loss of cortical neurones
neurofibrillary tangles (Intracellular)
Senile plaques (Extracellular)
What are Senile plaques?
Extracellular protein deposits containing amyloid B protein