Skeletal Muscle Flashcards

1
Q

What is nonspecific esterase used for?

A

Identify denervation atrophy

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2
Q

What is NADH tetrazolium reductase stain used for?

A

Identify denervation

Type I fibers are dark because mitochondria

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3
Q

What is succinate dehydrogenase stain used for?

A

Identify mitochondrial proliferations caused by mutations of mitochondrial DNA

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4
Q

What is cytochrome C oxidase stain used for?

A

Can identify fibers with abnormal mitochondria

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5
Q

What is alkaline phosphatase stain used for?

A

stains regenerating fibers

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6
Q

What is PAS stain used for?

A

identify glycogen and glycogen storage diseases

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7
Q

What is Oil red orein stain used for?

A

marks neutral lipids and evaluates lpid storage myopathies

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8
Q

What is modified comori trichome stain used for?

A

Identifies nemaline bodies, rimmed vacuole of inclusion body myositis and “ragged red fibers”

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9
Q

What is acid phosphatase stain used for?

A

identifies lysosomal activity within muscle fibers and macrophages

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10
Q

What is myosin ATPase stain used for?

A

Depending on pH helps to differentiates the fibers

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11
Q

What is myotonia?

A

slowing muscle relaxation

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12
Q

Most common adult muscular dystrophy?

A

Myotonic dystrophy

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13
Q

Who is congenital myotonic dystrophy seen in?

A

Children of women with DM1

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14
Q

Genes involved in myotonic dystrophy?

A

DM1: DMPK gene

DM2: ZNF9 gene

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15
Q

Gene involved in oculopharyngeal musclar dystrophy?

A

PABPN1 gene

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16
Q

What are the main components of congenital myopathies?

A

progressive, malignant hypotonia and decreased reflexes that usually kill within 12 months

17
Q

Mutation in central core disease?

A

Ryanodine receptor

18
Q

Define kyphoscoliosis:

A

secondary skeletal changes

19
Q

Mutation in central nuclear myopathy?

A

AD/ AR in dynamin 2 gene

20
Q

Mutation in Myotubular myopathy?

A

X linked in Myotubularin gene

21
Q

What are the characteristics of the inflammatory myopathies?

A

Symmetric proximal muscle weakness, increased serum levels of muscle enzymes, nonsuppurative inflammation of skeletal muscle

22
Q

Common morphological findings in inflammatory myopathies?

A

presence of inflammatory cells, necrosis and phagocytosis of muscle fibers, mixture of regenerating and atrophic fibers, fibrosis

23
Q

What mediated muscle damage in polymyositis?

A

cytotoxic T cells

24
Q

Clinical features of dermatomyositis?

A

Rash of the upper eyelids

Malar rash

red papules on the elbows, knuckles and knees

25
Q

Dermatomyositis has an increased risk for _____ cancer

A

epithelial cancer (mainly lung cancer)

26
Q

What is thought to create the antibodies seen in Myasthenia Gravis?

A

thymic hyperplasia and thymoma common: thymic T cells may active B cell to produced the culprit antibodies

27
Q

Name the type II glycogenosis?

A

Acid maltase deficiency, Pompe Disease

28
Q

Symptoms of acid maltase deficiency/ Pompe disease?

A

• hypotonia, areflexia, macroglossia, cardiomegaly…cardiac muscle, skeletal muscle, CNS, and liver most affected

29
Q

Name the Type III glycogenosis?

A

Cori Disease

30
Q

Enzyme deficient in cori disease?

A

debranching enzyme

31
Q

What are the symptoms of cori disease?

A

Liver and muscle problems

32
Q

Name a type Iglyogenosis?

A

McArdle disease

33
Q

What is deficient in McArdle disease?

A

Myophosphorylase

34
Q

What are the symptoms of McArdle?

A

Muscle cramping

35
Q

Name a Type VII glycogenosis?

A

Tarui Disease

36
Q

What is deficient in Tarui disease?

A

PFK

37
Q

Symptoms of Tarui disease?

A

Muscle cramping and low grade hemplysis