Nerve/Muscle Disorder Pathology

Question 1

What four things contribute to ALS

Answer 1

Abnormal protein aggregates
Excitotoxicity
ROS and MT dysfunction
Inflammation

Question 2

Clinical presentation of neuromuscular disease

Answer 2

weakness, sensory loss, pain

Question 3

Neurogenic disease

Answer 3

peripheral nerve cell bodies, peripheral nerves, neuromuscular junction

Question 4

Autoimmune neuromuscular junction disease

Answer 4

Myasthenia gravis

Question 5

Motor unit includes…

Answer 5

Cell body, axon, every muscle fiber innervated by axon

Question 6

Myopathic diseases

Answer 6

Muscular dystrophy
Inflammatory myositis
Metabolic/toxic storage diseases
Congenital myopathy

Question 7

Wallerian degeneration (i.e. anterograde)

Answer 7

trauma + vascular disease cause axon distal to injury to degenerate

Question 8

Distal axonopathy

Answer 8

systemic metabolic disease, toxin or genetic disease causes distal axon to die

Question 9

Peripheral nerve biopsy can be helpful for…

Answer 9

mononeuropathy multiplex

Question 10

mononeuropathy multiplex biopsy findings

Answer 10

Vasculitis with fibrinoid necrosis, hemorrhage

Question 11

Genetic neuromuscular junction disorder

Answer 11

congenital myasthenic syndromes

Question 12

X-linked recessive muscle disorders

Answer 12

Duchenne-Becker

Emery-Dreifuss

Question 13

Autosomal Dominant

Answer 13

Limb-girdle

Myotonic dystrophy

Question 14

Autosomal Recessive

Answer 14

Limb-girdle

Most congenital

Question 15

Muscular Dystrophy proteins compose

Answer 15

ECM proteins
Sarcolemma-associated
Sarcomere-associated
Glycosyltransferases for a-dystroglycan
Nuclear-envelope associated

Question 16

Metabolic myopathic disorders

Answer 16

Rhabdomyolysis
Glycogen storage disease
Pompe disease
Mitochondrial myopathy

Question 17

Microvascular disorder with perifascicular atrophy

Answer 17

Dermatomyositis

Question 18

fibrosis and fatty replacement, rimmed vacuoles

Answer 18

inclusion body myositis

Question 19

Motor neuron disease (ALS and SMA) is a…

Answer 19

Neurogenic disease

Question 20

DMD/BMD are _______ diseases

Answer 20

Myopathic

Question 21

In a peripheral neuropathy, the pathology is in the

Answer 21

Axon

Question 22

Myopathic neuromuscular diseases

Answer 22

NMJ

Muscle

Question 23

Distal symmetrical polyneuropathy appears as

Answer 23

stocking-glove distribution

Question 24

Myasthenia gravis is a ____genic neuromuscular disease that affects the _______________

Answer 24

Neurogenic

NMJ

Question 25

Neurogenic neuromuscular diseases

Answer 25

Peripheral nerve cell bodies Peripheral nerves NMJ

Question 26

Hereditary peripheral myelin disorders

Answer 26

Charcot-Marie-Tooth diseases (many genes)

Question 27

Two neuropathies that can be identified with biopsy

Answer 27

Vasculitis, Amyloidosis

Question 28

Electron microscopy shows great variance in myelination around axons, layers of Schwann cell processes

Answer 28

Charcot-Marie-Tooth

Question 29

Hereditary myelin disorder in the CNS myelin protein gene

Answer 29

Leukodystrophies

Question 30

Loss of junctional folds is seen in

Answer 30

Congenital myasthenic syndromes

Question 31

Internally placed nuclei are characteristic of ______ disease

Answer 31

myopathic

Question 32

Path findings in NEUROGENIC disease

Answer 32

Atrophy: angulated fibers, fiber type groups, pyknotic nuclear clusters Fiber type regrouping

Question 33

Nemaline rods are shown as

Answer 33

Little dots/aggregates

Question 34

Path findings in MYOPATHIC disease

Answer 34

``` atrophy/hypertrophy (rounded fibers, scattered) internally placed nuclei inflammation fiber necrosis regeneration endomysial fibrosis ```

Question 35

In motor neuron disease, the cell body

Answer 35

dies

Question 36

Fiber type regrouping is characteristic of ______ disease

Answer 36

Neurogenic

Question 37

Type 1 muscle fibers

Answer 37

``` One mighty slow fat red ox sustained, weight bearing slow myosin heavy chain abundant lipids, scant gluc NADH dark ```

Question 38

Inflammation occurs in _______ disease

Answer 38

Myopathic

Question 39

Angulated fibers are characteristic of _______ disease

Answer 39

Neurogenic

Question 40

Ragged red fibers are associated with

Answer 40

Mitochondrial myopathies