Disorders (3)

Question 1

What are the 3 most common types of AR syndromic hearing loss?

Answer 1

1) Usher
2) Pendred
3) Jervell and Lange-Nielsen

Question 2

What is a screening test for peroxisomal disorders?

Answer 2

very long chain fatty acids

Question 3

What is the inheritance pattern of Alport syndrome?

Answer 3

usually XL, but also can be AD and AR

Question 4

What are 3 features of 18q-?

Answer 4

• hearing loss
• narrow ear canals
• global DD / MR

Question 5

What are 2 hearing loss syndromes that also have renal implications?

Answer 5

• branchio-oto-renal syndrome

- Alport syndrome

Question 6

What are 2 hearing loss syndromes that also have retiniitis pigmentosa?

Answer 6

• peroxisomal disorders

- Usher syndrome

Question 7

What is the inheritance pattern of Treacher-Collins syndrome?

Answer 7

AD

Question 8

What is the inheritance pattern of branchio-oto-renal syndrome?

Answer 8

AD

Question 9

What is the inheritance pattern of Stickler syndrome?

Answer 9

AD

Question 10

What are 4 features of Stickler syndrome?

Answer 10

• eye findings
• progressive hearing loss
• midfacial underdevelopment / cleft palate
• spine dysplasia, precocious arthritis

Question 11

What is the inheritance pattern of Usher syndrome?

Answer 11

AR

Question 12

What is the inheritance pattern of Pendred syndrome?

Answer 12

AR

Question 13

What is the inheritance pattern of Jervell and Lange-Nielsen syndrome?

Answer 13

AR

Question 14

What is the inheritance pattern of peroxisomal disorders?

Answer 14

AR

Question 15

Which hearing loss disorder also can present with seizures?

Answer 15

peroxisomal disorders

Question 16

What are 2 features of Jervell and Lange-Nielsen syndrome?

Answer 16

• hearing loss

- long QT leading to syncope, sudden death

Question 17

What are 2 proteins associated with nonsyndromic deafness?

Answer 17

• connexin 26

- connexin 30

Question 18

What proportion of those with a congenital hearing impairment do not have a syndrome?

Answer 18

3/4

Question 19

What mutation accounts for 2/3 of Caucasian AR mutations for nonsyndromic hearing loss?

Answer 19

35delG in GJB2

Question 20

What is DFNB1?

Answer 20

AR nonsyndromic congenital deafness

Question 21

What is DFNA3?

Answer 21

rare AD progressive deafness with skin findings

Question 22

Name 5 features of Friedrich’s ataxia:

Answer 22

• progressive limb/gait ataxia
• dysarthria (speech difficulties)
• bladder dysfunction
• risk for cardiomyopathy
• risk for diabetes

Question 23

For Friedrich’s ataxia, name what are the repeat number cutoffs for a premutation (surrounded by normal and disease)?

Answer 23

34 - 65 repeats

Question 24

What do 20% of ALS patients develop?

Answer 24

frontotemporal dementia

Question 25

When suspecting limb-girdle muscular dystrophy, what is an important first step?

Answer 25

test to rule out DMD, BMD

Question 26

When suspecting limb-girdle muscular dystrophy, what is a possible second step in diagnosis?

Answer 26

protein immunostaining can identify the sarcoglycan genes associated with AR forms of the disease

Question 27

At what age does LGMD onset?

Answer 27

either childhood or adult?

Question 28

What are 2 features of Waardenburg syndrome?

Answer 28

- pigmentary abnormalities | - sensorineural HL

Question 29

What are the 2 most common types of AD syndromic hearing loss?

Answer 29

1) Waardenburg | 2) branchio-oto-renal

Question 30

What is a hearing loss syndrome in which precocious arthritis can also be seen?

Answer 30

Stickler