Disease brochures Flashcards
What is the inheritance pattern of Charcot-Marie Tooth disease type 1A?
Autosomal dominant
What is the underlying mutation of Charcot-Marie Tooth disease type 1A?
Large scale duplication or point mutations in PMP22
What are the symptoms of Charcot-Marie Tooth disease type 1A?
Distal weakness and atrophy, sensory loss, slow nerve conduction (classic symptoms of neuron demyelination
When do symptoms of Charcot-Marie Tooth disease type 1A start to appear?
Infancy and childhood
What is the inheritance pattern of hemophilia A?
X-linked recessive
What is the underlying mutation of hemophilia A?
Mutations in F8 gene leading to deficiency in a clotting factor
What are the symptoms of hemophilia A?
Easy bruising and excessive bleeding. Goose eggs on the head in children
What is the inheritance pattern of Prader Willi syndrome?
Autosomal, maternal imprinting, recessive ish
What is the underlying mutation of Prader Willi syndrome?
Microdeletions in paternal chromosome 15, maternal uniparental disomy, accidental silencing of the paternal copy
What are the symptoms of Prader Willi syndrome?
Insatiable hunger, childhood obesity, facial dysmorphisms,
What is the inheritance pattern of Miller Dieker syndrome?
Autosomal dominant
What is the underlying mutation of Miller Dieker syndrome?
Deletion on chromosome 17, usually spontaneous
What are the symptoms of Miller Dieker syndrome?
Cognitive and developmental impairment, facial dysmorphism
