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A 16-year-old male is brought to the emergency room by his parents for generalized weakness. The patient states that he woke up in the morning that day with flaccid paralysis of his arms and legs which was so significant that he couldn’t get out of bed. In typical teenage boy fashion, he wasn’t very worried about this at the time and went back to bed. It wasn’t until 4 hours later when he woke up again with the same degree of weakness that he became concerned and screamed for his parents to help. The patient denies any recent drug or alcohol use. The only interesting thing from the previous night was that he partook in and won a pizza-eating contest with his friends. The patient’s father admits to having had similar episodes to this when he was younger. If the patient’s symptoms are due to a genetic disorder, a mutation in which of the following genes is most likely responsible?
A 6-year-old male is brought to the pediatrician with multiple-decaying teeth since 2-3 years of age with no associated pain. He was born via C-section at term with no complications. Past medical history is significant for developmental delay and intellectual impairment. On physical exam, the patient is short-statured and obese with hypogonadism. His parents state that he has always been an overeater. What is the most likely diagnosis?
A mutation in which of the following genes would be most likely in a patient with numerous cavernous malformations seen on head imaging?
Which of the following genes is associated with Wilson’s disease?
A 15-year-old male is brought to his primary care doctor by his parents because of learning difficulties in school. Examination revealed several pigmented skin lesions (see below). Which of the following additional findings may be present on examination?
An MRI brain is ordered for a 6-month-old male with failure to thrive, dystonia, and regression of developmental milestones. The T2 axial images are shown below. Which of the following is most likely the diagnosis?
An 18-year-old male is brought to the clinic by his mother due to a 3-month history of personality changes. She states that during this time he has become increasingly rude and aggressive toward her. She also states that he was fired from his summer job last week after trying to steal from his boss. His father’s medical history is unknown. On examination, the patient has an ataxic gait and bradykinesia. His mental status exam shows impaired memory and language regression. Genetic testing of this patient would most likely show what?
A 32-year-old man was recently admitted to the stroke service for an intracranial hemorrhage secondary to an arteriovenous malformation. In addition to his acute focal neurological deficits, the following skin lesions are appreciated (see image below). A genetic syndrome is suspected. Based on the most likely clinical diagnosis, what is the risk of his son having the same condition?
A 38-year-old man with long-standing migraines was recently hospitalized for an unprovoked seizure. Upon further questioning, the patient admits to a strong family history of headaches and early strokes. A brain MRI is completed and a T2 sequence image is shown below. This patient likely has a mutation in which of the following genes?
A 19-year-old woman presents for evaluation of paroxysmal episodes of vertigo, spasticity, diplopia, and ataxia. She reports that her father and one of her two sisters have similar ailments. At the time of the appointment, there was no diplopia or ataxia appreciated. Myokymia was appreciated on electromyography. Which of the following is the most likely diagnosis?
Primary generalized dystonia is a genetic disorder that can be seen secondary to a mutation of which of the following genes?
A 5-year-old boy is seen in the clinic for seizures, vision loss, and progressive loss of milestones. MRI of the brain shows a posterior predominant leukodystrophy. Which of the following is the most likely diagnosis?
Parents bring their 3-year-old son to the clinic for difficulty walking. On examination, the patient has a waddling gait and enlarged calf muscles. When rising from a seated position he has to rely extensively on his arms to stand up. Which of the following is the most likely inheritance pattern of the genetic disorder affecting this patient?
Which of the following enzymes are deficient with Fabry Disease?