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NM Disease Flashcards

1
Q

Myosin ATPase pH 9.8

A

Type 1 fibers (slow twitch) light staining

Type 2 fibers (fast twitch) dark staining

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2
Q

Myosin ATPase incubation at pH 4.3

A

Type 1 fibers dark staining
Type 2A and 2B fibers light staining
Type 2C fibers dark staining

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3
Q

NADH dehydrogenase

A

Stains mitochondria and sarcoplasmic reticulum

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4
Q

Gomori modifies trichromatic

A

Stain for nucleuoproteins and lipoproteins; nuclei and aggregates of mitochondria and SR stain brilliant red. Stain of choice for demonstrating nemaline rods and ragged red fibers. Excellent stain for evaluation of nerve fiber morphology

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5
Q

Periodic acid Schiff

A

External basal lamina, glycogen and myelin. Good for detection of glycogen storage disorders

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6
Q

Oil red O

A

Stains triglyceride fats; good for staining intramyofiber lipid stores and detection of lipid storage disorders

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7
Q

Protein A-peroxidase

A

Detection of Ig at NMJs, ANA, anti-atrial antibodies

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8
Q

Drug-induced myopathies

A

D-penicillamine, cimetidine, TMS, tapazole in cats

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9
Q

Endocrine myopathies

A

Characterized by generalized atrophy of type 2 muscle fibers. A shift to type 1 fiber predominance, nemaline rods, and PAS positive deposits may be observed in hypothyroidism. Lobulated fibers may be found in chronic Cushings

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10
Q

Cytochrome c oxidase deficiency

A

Ragged red fibers, excessive lipid droplets

OES

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11
Q

Pyruvate dehydrogenase phosphate 1 deficiency

A

Ragged red fibers and excessive lipid droplets

Clumber, Sussex spaniels

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12
Q

Disorders of lipid metabolism

A

Oil red O lipid deposits in muscle
Acquired fatty acid oxidation defect in pasture fed horses
Primary or secondary carnitine deficiency
Unclassified in wire-haired pointing griffons

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13
Q

Disorders of glycogen metabolism

A 
PAS positive deposits in muscle biopsy
Myophosphorylase deficiency - Charolais cattle
Phosphofructokinase deficiency- springer spaniels, cocker spaniels
Polyglucan storage (ladies) - mini wire haired dachshunds
Polysaccharide storage - quarter horse, warmblood, draft breeds
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14
Q

Dystrophin deficiency

A

X-linked but affected females reported
Golden retriever, Rottweiler, GSHP, Irish terrier, Samoyed, miniature schnauzer, Brittany spaniels, rat terrier, PWC, Labrador retrievers, Japanese spitz, CKCS
Hypertrophic MD in some DSH

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15
Q

Laminin a2 deficiency

A

Major component of basal lamina that surrounds each muscle fiber
One of the extra cellular ligand for the dystrophin-associated glycoprotein complex that links the extra cellular matrix and contributes to the stability of the muscle basement membrane

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16
Q

Sarcoglycan deficiency

A

Part of the dystrophin glycoprotein complex which stabilizes myofiber membranes during contraction
Chihuahua, cocker spaniel, Boston terrier- epsilon subunit of sarcoglycans, Doberman

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17
Q

Collagen VI deficiency

A

Multiple limb deformities in Labrador retriever at 5mo; weakness at 6wo in Landseer dogs
Dx via muscle bx

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18
Q

Myotonia congenital

A

Chow chow, miniature schnauzer, staffordshire terrier, Australian cattle dog, domestic cats

MS/ACD/cats - mutations in skeletal muscle voltage-dependent chloride channel (CLCN1)

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19
Q

Centronuclear myopathy in Labrador retrievers

A

PTPLA mutation

Genetic test available

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20
Q

X-linked myotubular myopathy

A

Mutations in myotubularin gene (MRM1) in Labrador retrievers and Rottweiler
Identified in Manchester terriers but mutation unknown
Muscle bx still required for characterization in early onset myopathy in breeds w/o genetic test

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21
Q

Centronuclear myopathy

A

Great Danes - mutation in BIN1 gene

Border collies - mutation unknown

22
Q

Nemaline rods myopathy

A

Border collie, cat, American bulldog - nebulin gene

23
Q

Myostatin deficiency

A

Whippet

Mutation identified

24
Q

Myofibrillar myopathy

A

Mixed breed dog

25
Q

Congenital myasthenia syndromes

A

COLQ gene mutation - encodes collagenous tail of AChesterase: Labrador retrievers, Devon Rex, Sphinx, Golden retrievers
CHRNE gene mutation- encoding epsilon subunit of AChR in JRT
CHAT gene mutation - choline acetyltransferase in old danish pointing dogs

26
Q

Spinal muscular atrophy

A

Rottweiler, Brittany spaniel, Maine coon cat, EMND

Genetic test available for Maine coon cat condition

27
Q

Sensory neuropathy

A

Dachshund, pointer, border collie, greyhound, Swedish golden retrievers

Mutation identified and genetic test available for BC
Mutation identified in mitochondrial polyneuropathy affecting Swedish golden retriever

28
Q

Giant axonal neuropathy

29
Q

Progressive axonopathy

30
Q

Hypertrophic neuropathy

A

Tibetan mastiff

31
Q

Globoid cell leukodystrophy

A

WHWT, cairns terrier

32
Q

Inherited polyneuropathy

A

Leonberger, St. Bernard, miniature schnauzer, Pyrenean mountain dogs, Rottweiler, Samoyed, Alaskan malamute
Mutation identified in AM
Multiple mutations associated with Leonberger polyneuropathy

33
Q

Hyperchylomicronemia

34
Q

Hyperoxaluria

35
Q

Chorea

A

Abrupt nonsustained contraction of different groups of muscles in the same patient

36
Q

Dystopia

A

Sustained involuntary contraction of a group of muscles

37
Q

Tetany

A

Sustained involuntary contraction of extensor muscles that is variable intermittent

38
Q

Athetosis

A

Prolonged contraction of trunk muscles causing a bending or writhing motion

39
Q

Ballism

A

Abrupt contraction of limb muscles causing a flailing movement of the limb

40
Q

Myoclonus

A

Shock like contraction of a muscle or muscles that tends to occur repeatedly in a rhythmic pattern and may persist during sleep

41
Q

Tremor

A

Involuntary rhythmic oscillating movement of fixed frequency resulting from alternate or synchronous contraction of reciprocally innervated antagonistic muscles
Should cease with sleep

42
Q

Myokymia

A

Involuntary rippling of muscles that persists even during sleep and under anesthesia

43
Q

Neuromyotonia

A

Muscle stiffness and persistent contraction related to and underlying spontaneous repetitive firing of motor unit potentials

44
Q

Dyskinesia

A

Impairment of the power of voluntary movements resulting in fragmented or incomplete movements

45
Q

Synapsin 1

A

Controls the availability of synaptic vesicles

46
Q

Synaptotagmin

A

Associated with N-type Ca2+ channels

47
Q

Synaptobrevin

A

Vesicles-associates membrane protein

Essential for exocytosis

48
Q

Syntaxin and synaptosome-associated protein 25

A

Along with synaptobrevin, essential components of the exocytosis process

49
Q

N-ethylmaleimide-sensitive fusion protein (NSF)

A

Involved in neurotransmitter release

50
Q

NSF-attachment proteins

A

Involved in neurotransmitter release

Neuromuscular (1 decks)

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