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ABGC2 > Disorders (3) > Flashcards

Disorders (3) Flashcards

1
Q

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

A

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

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2
Q

What is a screening test for peroxisomal disorders?

A

very long chain fatty acids

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3
Q

What is the inheritance pattern of Alport syndrome?

A

usually XL, but also can be AD and AR

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4
Q

What are 3 features of 18q-?

A
  • hearing loss
  • narrow ear canals
  • global DD / MR
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5
Q

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

A
  • branchio-oto-renal syndrome

- Alport syndrome

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6
Q

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

A
  • peroxisomal disorders

- Usher syndrome

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7
Q

What is the inheritance pattern of Treacher-Collins syndrome?

A

AD

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8
Q

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

A

AD

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9
Q

What is the inheritance pattern of Stickler syndrome?

A

AD

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10
Q

What are 4 features of Stickler syndrome?

A
  • eye findings
  • progressive hearing loss
  • midfacial underdevelopment / cleft palate
  • spine dysplasia, precocious arthritis
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11
Q

What is the inheritance pattern of Usher syndrome?

A

AR

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12
Q

What is the inheritance pattern of Pendred syndrome?

A

AR

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13
Q

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

A

AR

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14
Q

What is the inheritance pattern of peroxisomal disorders?

A

AR

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15
Q

Which hearing loss disorder also can present with seizures?

A

peroxisomal disorders

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16
Q

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

A
  • hearing loss

- long QT leading to syncope, sudden death

17
Q

What are 2 proteins associated with nonsyndromic deafness?

A
  • connexin 26

- connexin 30

18
Q

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

A

3/4

19
Q

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

A

35delG in GJB2

20
Q

What is DFNB1?

A

AR nonsyndromic congenital deafness

21
Q

What is DFNA3?

A

rare AD progressive deafness with skin findings

22
Q

Name 5 features of Friedrich’s ataxia:

A
  • progressive limb/gait ataxia
  • dysarthria (speech difficulties)
  • bladder dysfunction
  • risk for cardiomyopathy
  • risk for diabetes
23
Q

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

A

34 - 65 repeats

24
Q

What do 20% of ALS patients develop?

A

frontotemporal dementia

25
Q

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

A

test to rule out DMD, BMD

26
Q

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

A

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

27
Q

At what age does LGMD onset?

A

either childhood or adult?

28
Q

What are 2 features of Waardenburg syndrome?

A
  • pigmentary abnormalities

- sensorineural HL

29
Q

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

A

1) Waardenburg

2) branchio-oto-renal

30
Q

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

A

Stickler

ABGC2 (12 decks)

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