Inherited conditions

Question 1

A young man presents with clumsiness and an increased tendency to trip. He has high arched feet and weakness of foot and ankles. There is diminished vibration and sensation at the toes.This is..

Answer 1

charcot marie tooth

Question 2

A young boy with autism has seizures and an MRI that shows subependymal nodules in the foramen of Munro. This is..

Answer 2

tuberous sclerosis

Question 3

A 22 year old woman reports weakness, abdominal pain and diffuse weakness. There is reduced sensation to pin prick in a stocking glove pattern. This is..

Answer 3

acute intermittent poryphoria

Question 4

A young man presents with muscle cramping after exercising and dark urine. This is..

Answer 4

a glycogen storage disease (e.g. McArdle’s)

Question 5

A 12 year old reports balance problems, pes cavus and kyphoscoliosis. This is..

Answer 5

Freidrich’s ataxia