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NMSP - Exam 2 > Inherited Diseases of Skeletal Muscle > Flashcards

Inherited Diseases of Skeletal Muscle Flashcards

1
Q

When will Muscular Dystrophies present?

A

Near Adulthood

– NOT IN INFANCY

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2
Q

Muscular Dystrophies involve progressive muscle damage near adulthood. They will NOT present when?

A

NOT present in infancy

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3
Q

What are 2 X-linked Muscular Dystrophies?

A
  1. Duchenne

2. Becker

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4
Q

What gene is mutation and where with X-linked Muscular Dystrophies?

A

DMD gene – Xp21 chromosome

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5
Q

What protein is absent or decreased with X-linked Muscular Dystrophies?

A

Dystrophin

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6
Q

Can female carries of X-linked muscular dystrophies be affected?

A

May be mildly symptomatic

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7
Q

Level of Dystrophin protein with Duchenne Muscular Dystrophy?

A

ABSENT

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8
Q

When will symptoms present with Duchenne muscular dystrophy and what is the outlook?

A

Symptoms around 5 yo

– Death at 25-30 yo

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9
Q

What are the symptoms of Duchenne?

A

Muscle weakness and clumsiness

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10
Q

Besides muscles, what other impairments will be seen with Duchenne?

A

Heart and cognitive impairments

– Dystrophin protein is absent from heart and CNS too

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11
Q

Level of Dystrophin protein with Becker muscular dystrophy?

A

DECRASED

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12
Q

When will symptoms present and what is the outlook for Becker muscular dystrophy?

A

Symptoms at late childhood

– NORMAL LIFE SPAN

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13
Q

Does Becker muscular dystrophy also have cardiac disease like Duchenne?

A

Yes

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14
Q

What histo change of the muscles will be present with Duchenne and Becker x-linked muscular dystrophies?

A

Pseudohypertrophy

=> increased collagen and fat

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15
Q

What histo change of the muscles will be present with Duchenne and Becker Muscular Dystrophies?

A

Pseudohypertophy

=> increased collagen and fat

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16
Q

What are the 2 X-linked Muscular Dystrophies, what gene and protein are mutated/absent/decreased?

A

** DMD gene on Xp21 mutated
Duchenne - ABSENT Dystrophin
Becker - DECREASED Dystrophin

17
Q

Limb-Girdle Muscular Dystrophy has forms that are inherited how?

A

AD and AR forms

18
Q

What is the symptom of Limb-Girdle Muscular Dystrophy?

A

Proximal muscle weakness

19
Q

How is Myotonic Dystrophy inherited?

A

AD

20
Q

What trinucleotide repeat is seen with Myotonic Dystrophy?

A

CTG repeats

21
Q

What protein/gene is mutated with Myotonic Dystrophy?

A

DMPK

22
Q

What histo change will be present with Myotonic Dystrophy?

A

Ring fiber

23
Q

What are the general symptoms (4) of Myotonic Dystrophy?

A

Weakness
Cataracts
Endocrinopathy
Cardiomyopathy

24
Q

What are the general symptoms (4) with Myotonic Dystrophy?

A

Weakness
Cataracts
Endocrinopathy
Cardiomyopathy

25
Q

What specific muscle weakness symptom will present with Myotonic Dystrophy?

A

Stiffness – difficulty releasing grip

26
Q

Ptosis and “hatchet face” can present with?

A

Myotonic Dystrophy

27
Q

Diseases of lipid or glycogen metabolism can also cause myopathies. What are 3?

A

Carnitine Polmitoyltransferase 2 deficiency
McArdle Disease
Pompe Disease

28
Q

Symptoms of Carnitine Palmitoyltransferase 2 deficiency?

A

Episodic muscle damage with exercise and fasting

29
Q

McArdle Diseases involves _____ deficiency

A

Myophosphorylase deficiency

30
Q

Symptoms of McArdle Disease?

A

Episodic muscle damage with exercise

31
Q

Pompe Disease involves _____ deficiency

A

Acid Maltase deficiency

32
Q

Symptoms of Pompe Disease?

A

Glycogenesis of infancy

33
Q

How is mitochondrial DNA inherited?

A

Maternal inheritance

34
Q

With Mitochondrial Myopathies, what is impaired?

A

Ability to generate ATP is impaired

35
Q

What histo change will be seen with Mitochondrial Myopathies?

A

Ragged Red Fibers

36
Q

What are the general symptoms of Mitochondrial Myopathies?

A

Weakness, Rhabdomyolysis (increased creatine Kinase)

37
Q

What will be increased in the serum with Mitochondrial myopathies?

A

Serum Creatine Kinase

38
Q

What specific weakness is seen with Mitochondrial myopathies?

A

EOM weakness

= Chronic progressive External Ophthalmoplegia

NMSP - Exam 2 (29 decks)

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