20 November Flashcards
What is Ehlers Danlos Syndrome?
A connective tissue disorder
Categorised by Joint hypermobility, skin hyperextensibility and tissue fragility
What are features of Marfans Syndrome?
Tall
Long fingers/face
Increased risk of AAA rupture/dissection
What are features of Huntingdons disease?
Initially manifest as personality change, clumsiness
Later features include dementia, chorea and rigidity
What is Spondylopiphyseal Dysplasia?
Form of dwarfism that affects the spine as well as the limbs leading to shortened spineha
What is the life expectancy of Duchenne Muscular Dystrophy?
Loss of mobility around 10 years
Die by age 30
What mode of inheritance is Haemophilia?
X linked recessive
What are features of Beckers Muscular Dystrophy?
Presents later
Difficulty walking
Difficulty running, jumping, hopping
Muscle wasting
Frequent falls
Difficult getting up from chair or floor
What mode of inheritance is Von Willebrand?
Autosomal Dominant
Type 3- Autosomal Recessive
What mode of inheritance is Anti-phospholipid syndrome?
No specific genetic cause
Combination of environmental and genetic factors
What conditions are most commonly associated with downs syndrome
1) Hearing Loss
2) Dementia
3) Cataracts
4) Seizure
5) Scoliosis
Order in prevelance
what is the mode of inheritance of Albinism?
Autosomal recessive
What mode of inheritance is neurofibromatosis?
Autosomal Dominant
What is predictive testing?
Provide information about whether or not someone will develop or is likely to develop a specific condition, often later in life
What is diagnostic testing?
A test used to help figure out what disease or condition a person has based on their signs and symptoms
What is pharmacogenetic testing?
Uses a sample of saliva (spit), a buccal (cheek) swab, or blood. The sample goes to a lab, which runs tests on the genes that determine how the body will handle some medicines.
