Genetics Flashcards
How is Duchene Muscular Dystrophy passed on?
X-Linked Recessive
What are the features of Duchene Muscular Dystrophy?
Delay in motor development
Shoulder/Pelvic weakness
Wheelchair bound by 10/12
Death in 20’s due to cardio/respiratory muscle involvement
What gene is altered in Duchene Muscular Dystrophy?
Dystrophin gene
What are two signs of Duchene Muscular Dystrophy?
Gower’s sign
Toe walking
What are investigations for Duchene Muscular Dystrophy?
Raised serum creatine kinase
Electromyography (EMG)
Muscle biopsy
Molecular genetic testing
How is Huntington’s Disease passed on?
Autosomal Dominant
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?
Involuntary movements
Dementia
Severe dependancy and death over 15-20 years
What are early clinical signs for Huntington’s Disease?
Clumsiness, agitation irritability, apathy anxiety, disinhibition delusions hallucinations abnormal eye movements depression
What are later clinical signs for Huntington’s Disease?
Dystonia, involunatary movements balance/walking trouble slow voluntary movements difficulty initiating movement weight loss speech difficulties stubbornness 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
What is Amyloid B protein?
Fragment of the product of APP (Amyloid Precursor Protein) gene found on chromosome 21
