Skeletal Muscle

Question 1

What is nonspecific esterase used for?

Answer 1

Identify denervation atrophy

Question 2

What is NADH tetrazolium reductase stain used for?

Answer 2

Identify denervation

Type I fibers are dark because mitochondria

Question 3

What is succinate dehydrogenase stain used for?

Answer 3

Identify mitochondrial proliferations caused by mutations of mitochondrial DNA

Question 4

What is cytochrome C oxidase stain used for?

Answer 4

Can identify fibers with abnormal mitochondria

Question 5

What is alkaline phosphatase stain used for?

Answer 5

stains regenerating fibers

Question 6

What is PAS stain used for?

Answer 6

identify glycogen and glycogen storage diseases

Question 7

What is Oil red orein stain used for?

Answer 7

marks neutral lipids and evaluates lpid storage myopathies

Question 8

What is modified comori trichome stain used for?

Answer 8

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

Question 9

What is acid phosphatase stain used for?

Answer 9

identifies lysosomal activity within muscle fibers and macrophages

Question 10

What is myosin ATPase stain used for?

Answer 10

Depending on pH helps to differentiates the fibers

Question 11

What is myotonia?

Answer 11

slowing muscle relaxation

Question 12

Most common adult muscular dystrophy?

Answer 12

Myotonic dystrophy

Question 13

Who is congenital myotonic dystrophy seen in?

Answer 13

Children of women with DM1

Question 14

Genes involved in myotonic dystrophy?

Answer 14

DM1: DMPK gene

DM2: ZNF9 gene

Question 15

Gene involved in oculopharyngeal musclar dystrophy?

Answer 15

PABPN1 gene

Question 16

What are the main components of congenital myopathies?

Answer 16

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

Question 17

Mutation in central core disease?

Answer 17

Ryanodine receptor

Question 18

Define kyphoscoliosis:

Answer 18

secondary skeletal changes

Question 19

Mutation in central nuclear myopathy?

Answer 19

AD/ AR in dynamin 2 gene

Question 20

Mutation in Myotubular myopathy?

Answer 20

X linked in Myotubularin gene

Question 21

What are the characteristics of the inflammatory myopathies?

Answer 21

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

Question 22

Common morphological findings in inflammatory myopathies?

Answer 22

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

Question 23

What mediated muscle damage in polymyositis?

Answer 23

cytotoxic T cells

Question 24

Clinical features of dermatomyositis?

Answer 24

Rash of the upper eyelids

Malar rash

red papules on the elbows, knuckles and knees

Question 25

Dermatomyositis has an increased risk for _____ cancer

Answer 25

epithelial cancer (mainly lung cancer)

Question 26

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

Answer 26

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

Question 27

Name the type II glycogenosis?

Answer 27

Acid maltase deficiency, Pompe Disease

Question 28

Symptoms of acid maltase deficiency/ Pompe disease?

Answer 28

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

Question 29

Name the Type III glycogenosis?

Answer 29

Cori Disease

Question 30

Enzyme deficient in cori disease?

Answer 30

debranching enzyme

Question 31

What are the symptoms of cori disease?

Answer 31

Liver and muscle problems

Question 32

Name a type Iglyogenosis?

Answer 32

McArdle disease

Question 33

What is deficient in McArdle disease?

Answer 33

Myophosphorylase

Question 34

What are the symptoms of McArdle?

Answer 34

Muscle cramping

Question 35

Name a Type VII glycogenosis?

Answer 35

Tarui Disease

Question 36

What is deficient in Tarui disease?

Answer 36

PFK

Question 37

Symptoms of Tarui disease?

Answer 37

Muscle cramping and low grade hemplysis