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Musculoskeletal Exam 1 > Biochem - Biochemical Basis of muscle diseases > Flashcards

Biochem - Biochemical Basis of muscle diseases Flashcards

1
Q

What muscular dystrophies are X-linked?

A
  • Duchenne (DMD)

- Becker (BMD)

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2
Q

What muscular dystrophies are autosomal?

A
  • Myotonic
  • Facioscapulohumeral
  • Limb-girdle
  • Oculopharyngeal
  • Congenital
  • Bethlem myopathy
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3
Q

For Duchenne’s what is the inheritance rates?

  • progression speed?
  • What is the main deficiency and what is it do to?
A
  • 1 in 3,500 (30% new mutations)
  • rapid progression
  • Dystrophin is virtually absent and it is due to a frameshift mutation
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4
Q

Contrast Becks muscular dystrophy and Duchenne’s.

A

Beckers is more rare (1-20,000 w/ 2% new mutations)

  • Slower progressing
  • Reduced or modified dystrophin due to a non-frameshif mutation
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5
Q

What is gower sign?

A
  • climbing up with hands to get into standing position
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6
Q

What does dystrophin do?

A
  • Dystrophin is a cytoskeleton protein that connects the actin of the cell to the cell membrane.
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7
Q

What are the diagnosis and carrier detection tests?

A
  • History and physical examination
  • Serum creatine kinase levels
  • muscle biopsy
  • Multiplex PCR (most popular method)
  • CSAIP
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8
Q

What are the characteristics of myotonic aspect of muscular dystrophy?

A

Myotonia (difficulty in relaxing upon contraction

  • Muscle wasting
  • Cataracts
  • Diabetes mellitus
  • Frontal balding
  • Mild mental deterioration
  • Testicular atrophy
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9
Q

What is the other name for DM1? What is it genetic defect? Does DM1 or DM2 have anticipation?

A
  • DM1 (Steinert’s)
  • Expansion of CTG repeats - while DM2’s expansion is CCTG.
  • DM1 has anticipation while DM2 doesn’t
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10
Q

What is the trend in the age of onset of DM1 disorder?

A
  • Mild –20-70 (50-100 expansion)
  • Classic- 10-30 year (100-1000 expansion)
  • Congenital - birth -10 years (1000-4000 expression)
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11
Q

What is the repeat expansion for Huntington’s?

What is the normal length and what is the mutation length?

A
  • CAG

- 9-35–> 37-100

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12
Q

What is the repeat expansion for Fragile X?

What is the normal length and what is the mutation length?

A

CGG

- 6-25 –>200-1000

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13
Q

What is the repeat expansion for Friedreich ataxia?

- What is the normal length and what is the mutated length?

A
  • GAA

- 7-22 –> 200

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14
Q

What is the repeat expansion of Myotonic Dystrophy?

What is the normal length and what is the mutated length?

A
  • CTG

- 5-35 –> 50-4000

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15
Q

What is fascioscapulohumeral Dystrophy?

  • What is the onset time
  • What is the genetic defect and protein production?
A

1-20,000
Principally affects upper body
- onset at 10 - 25 years
- CK levels normal to 5-fold increase

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16
Q

What occurs with muscles and muscle weakness in FSDH?

A
  • muscles that don’t normally show from the front are visible.
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17
Q

What is Limb-girdle muscular dystrophies symptoms, age of onset, and common forms?

A
  • ## Is an weakness in the upper arms and leg, the recessive form has an earlier onset (1 or 2nd decade), and 4 of most common forms are mutations in genes encoding sarcoglycans.
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18
Q

What is the repeat expansion in oculophargyngeal muscular dystrophy?
- When is the normal onset?
- Symptoms?
- Groups of interest that have more common exposure to it?
-

A
  • GCN repeat
  • Onset 5th or 6th decade
  • Drooping eyelids, weakness in facial and pharyngeal muscles
  • 1 in 1,000 in french-canadians; 1 in 600 in Bukharan jews
19
Q

What are the symptoms that accompany CMD? What do 50% of patients present with a deficiency in?

A

Hypotonia, followed by muscle weakness, seveity and rate of progression depend on specific mutation, MR
- 50% deficiency in laminin-2

20
Q

What are sarcoglycans affected by?

A

Limb muscular dystrophy

21
Q

In Bethlem Myopathy what do mutations affect?

A
  • Type VI collagen **
22
Q

What is the defect in malignant hyperthermia?

What types of muscular dystrophy might be susceptible to MH?

A

It is a mutation in calcium channel transport protein (RYR gene) allowing release of Ca2+ from lumen into SR
-DMD, BMD, and MMD

23
Q

What muscular dystrophies are X-linked?

A
  • Duchenne (DMD)

- Becker (BMD)

24
Q

What muscular dystrophies are autosomal?

A
  • Myotonic
  • Facioscapulohumeral
  • Limb-girdle
  • Oculopharyngeal
  • Congenital
  • Bethlem myopathy
25
Q

For Duchenne’s what is the inheritance rates?

  • progression speed?
  • What is the main deficiency and what is it do to?
A
  • 1 in 3,500 (30% new mutations)
  • rapid progression
  • Dystrophin is virtually absent and it is due to a frameshift mutation
26
Q

Contrast Becks muscular dystrophy and Duchenne’s.

A

Beckers is more rare (1-20,000 w/ 2% new mutations)

  • Slower progressing
  • Reduced or modified dystrophin due to a non-frameshif mutation
27
Q

What is gower sign?

A
  • climbing up with hands to get into standing position
28
Q

What does dystrophin do?

A
  • Dystrophin is a cytoskeleton protein that connects the actin of the cell to the cell membrane.
29
Q

What are the diagnosis and carrier detection tests?

A
  • History and physical examination
  • Serum creatine kinase levels
  • muscle biopsy
  • Multiplex PCR (most popular method)
  • CSAIP
30
Q

What are the characteristics of myotonic aspect of muscular dystrophy?

A

Myotonia (difficulty in relaxing upon contraction

  • Muscle wasting
  • Cataracts
  • Diabetes mellitus
  • Frontal balding
  • Mild mental deterioration
  • Testicular atrophy
31
Q

What is the other name for DM1? What is it genetic defect? Does DM1 or DM2 have anticipation?

A
  • DM1 (Steinert’s)
  • Expansion of CTG repeats - while DM2’s expansion is CCTG.
  • DM1 has anticipation while DM2 doesn’t
32
Q

What is the trend in the age of onset of DM1 disorder?

A
  • Mild –20-70 (50-100 expansion)
  • Classic- 10-30 year (100-1000 expansion)
  • Congenital - birth -10 years (1000-4000 expression)
33
Q

What is the repeat expansion for Huntington’s?

What is the normal length and what is the mutation length?

A
  • CAG

- 9-35–> 37-100

34
Q

What is the repeat expansion for Fragile X?

What is the normal length and what is the mutation length?

A

CGG

- 6-25 –>200-1000

35
Q

What is the repeat expansion for Friedreich ataxia?

- What is the normal length and what is the mutated length?

A
  • GAA

- 7-22 –> 200

36
Q

What is the repeat expansion of Myotonic Dystrophy?

What is the normal length and what is the mutated length?

A
  • CTG

- 5-35 –> 50-4000

37
Q

What is fascioscapulohumeral Dystrophy?

  • What is the onset time
  • What is the genetic defect and protein production?
A

1-20,000
Principally affects upper body
- onset at 10 - 25 years
- CK levels normal to 5-fold increase

38
Q

What occurs with muscles and muscle weakness in FSDH?

A
  • muscles that don’t normally show from the front are visible.
39
Q

What is Limb-girdle muscular dystrophies symptoms, age of onset, and common forms?

A
  • ## Is an weakness in the upper arms and leg, the recessive form has an earlier onset (1 or 2nd decade), and 4 of most common forms are mutations in genes encoding sarcoglycans.
40
Q

What is the repeat expansion in oculophargyngeal muscular dystrophy?
- When is the normal onset?
- Symptoms?
- Groups of interest that have more common exposure to it?
-

A
  • GCN repeat
  • Onset 5th or 6th decade
  • Drooping eyelids, weakness in facial and pharyngeal muscles
  • 1 in 1,000 in french-canadians; 1 in 600 in Bukharan jews
41
Q

What are the symptoms that accompany CMD? What do 50% of patients present with a deficiency in?

A

Hypotonia, followed by muscle weakness, seveity and rate of progression depend on specific mutation, MR
- 50% deficiency in laminin-2

42
Q

What are sarcoglycans affected by?

A

Limb muscular dystrophy

43
Q

In Bethlem Myopathy what do mutations affect?

A
  • Type VI collagen **
44
Q

What is the defect in malignant hyperthermia?

What types of muscular dystrophy might be susceptible to MH?

A

It is a mutation in calcium channel transport protein (RYR gene) allowing release of Ca2+ from lumen into SR
-DMD, BMD, and MMD

Musculoskeletal Exam 1 (11 decks)

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