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Flashcards in Genetics Deck (15):
1

How is Duchene Muscular Dystrophy passed on?

X-Linked Recessive

2

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

3

What gene is altered in Duchene Muscular Dystrophy?

Dystrophin gene

4

What are two signs of Duchene Muscular Dystrophy?

Gower's sign
Toe walking

5

What are investigations for Duchene Muscular Dystrophy?

Raised serum creatine kinase
Electromyography (EMG)
Muscle biopsy
Molecular genetic testing

6

How is Huntington's Disease passed on?

Autosomal Dominant

7

What is Huntington's Disease and when does it occur?

Progressive Neurodegenerative disorder and between 30-50 years

8

What are features of Huntington's Disease?

Involuntary movements
Dementia
Severe dependancy and death over 15-20 years

9

What are early clinical signs for Huntington's Disease?

Clumsiness, agitation
irritability, apathy
anxiety, disinhibition
delusions hallucinations
abnormal eye movements
depression

10

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

11

What is bradykinesia?

Difficulty initiating and continuing movement

12

What is the genetic problem with Huntington's Disease?

The huntington gene,
CAG which codes for Glutamine

13

What is the pathology of Alzheimer Disease?

Loss of cortical neurones
neurofibrillary tangles (Intracellular)
Senile plaques (Extracellular)

14

What are Senile plaques?

Extracellular protein deposits containing amyloid B protein

15

What is Amyloid B protein?

Fragment of the product of APP (Amyloid Precursor Protein) gene found on chromosome 21