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MNP - myopathies Flashcards

1
Q

Which ion channel are implicated in myotonia congenita?

A

Chloride channel

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2
Q

What is the histological finding in hyperadrenocorticism myopathy?

A

Type II atrophy

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3
Q

True or false: mitotane or trilostane has limited effect on muscle stiffness.

A

true
muscle weakness usually resolve with HC treatment severe muscle stiffness does not

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4
Q

Describe the specificities of type I and II myofibers.

A

Type I: slow = oxidative
Type II: fast = glycogene

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5
Q

Cite 5 infectious agents that may cause myositis in the dog and the cat

A

Neosporosis
Toxoplasmosis
Leishmaniosis
B. Burgdorferi
Leptospirosis
Ehrlichia canis
Hepatozoonosis
Trypanosomiasis
Trichinosis
Sarcocystosis
Microfilariasis
Clostridiosis
FIV
Sporotrichosis
R. ricketsii

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6
Q

Muscles hypertrophied in dystrophin deficient muscular dystrophy in dogs? In cats?

A

Dogs:
Semi-tendinous
Semi-membranous
Sartorius
Tongue

Cat: all

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7
Q

Mutation and breed associated with inherited form of hypokaliemic myopathy

A

Burmese
Mutation WNK4 (proteine kinase in distal nephron)
onset 1y, some without signs, maj episodic
signs not always assoc with low K

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8
Q

DDX ventroflexion in cats

A

HypoK
Myasthenia gravis
Hypothroidism
Diabetes
Organophosphate toxicity
Thiamine deficiency
Polymyositis
Cervical ischemic myelopathy

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9
Q

What are the abnormalities seen during EMG in dogs with hypercortisolism-associated SMS? Which muscles are more affected?

A

EMG: complex repetitive discharges and occasional myotonic discharges, fibrillation potentials, and positive sharp waves

Muscles: epaxial and proximal appendicular muscles > distal appendicular muscles

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10
Q

DDx inflammatory myopathies

A

*Idiopathic *(presumed immune-mediated or autoimmune)
Masticatory muscle myositis
Polymyositis: diffuse, extraocular, laryngeal
Dermatomyositis

*Secondary *(associated with other diseases)
Infectious
- Parasitic: Neosporosis, Toxoplasmosis,
- Hepatozoonosis, Trypanosomiasis, Trichinosis, Sarcocystosis, Microfilariasis
- Bacterial: Leptospirosis, Clostridial
- Rickettsial: Ehrlichia cani
- Viral: Feline immunodeficiency virus, other viral?
- Fungal: Sporotrichosis, Systemic mycosis
Connective tissue diseases: systemic lupus erythematosus
Paraneoplastic diseases: thymoma
Drug-induced myopathy: D-penicillamine, cimetidine, trimethoprim-sulfadiazine

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11
Q

What stains period acid-Schiff in muscle?

A

Glycogen and polysaccharide

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12
Q

What are the 4 genes implied in centronuclear myopathy in dogs? Which breeds are related?

A

HACD1 = PTPLA: Labrador retriever
BIN1: Great Dane
DMN2: Border Collie
MTM1 (XL): Labrador retriever, Rottweiler, Boykin spaniels, Maine Coon

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13
Q

What are the 2 drugs for myotonia congenita in dogs? In cats?

A

Procainamide (toxic in cats)
Mexiletine
Both are Na+ channel blockers
**
Phenytoin**

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14
Q

What is the molecule for provocative test of Scotty cramps?

A

Methysergide: competitive serotonin antagonist

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15
Q

The following statements are correct, except:
1. Congenital myotonia is a channelopathy
2. In cases of rhabdomyolysis, there is elevation of CK concentrations
3. CK has a shorter life compared to AST
4. Dystrophin is a protein of the sarcoplasmic reticulum

A

4

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16
Q

What is the main histopathologic feature associated with steroid-induced myopathy?

A

Atrophy of type II muscle fibres

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17
Q

What are the risk factors for limber tail syndrome in Labrador Retriever? What is the incidence in this breed?

A

Swimming is not a necessary precursor for limber tail, but it is a risk factor (OR=4.7) and working dogs were more susceptible than non-working dogs (OR=5.1). Higher latitudes were shown to be a risk factor for developing the condition and the case dogs were more related to each other than might be expected by chance. This suggests that dogs may have an underlying genetic predisposition to developing the condition.
The cumulative incidence of unexplained tail limpness was 9.7%.

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18
Q

What is the most frequent cause of muscles cramp in dogs?

A

Hypocalcemia secondary to hypoparathyroidism

The cause of MCs was hypocalcemia in 11/14 (79%) dogs: 9 dogs were affected by primary hypoparathyrodism, 1 dog by intestinal lymphoma and 1 dog by protein losing enteropathy.
In 3/14 cases (21%) the cause was not identified, and all 3 dogs were German Shepherds.

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19
Q

Muscle stiffness in dog with hypercortisolism
1. Is associated with worse prognosis than dog without locomotor signs
2. Resolve with HC treatment in the majority of dog
3. Can involve masticatory muscles

A

3

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20
Q

What are the 3 patterns of muscles cramp in dogs?

A

Pattern I = migrating pattern: sudden onset of stiffness and abduction of 1 thoracic limb, failure to bear the weight lasting few seconds, followed by a sustained muscular contraction with flexion of 1 pelvic limb and fall in lateral recumbency

Pattern II = pelvic limbs pattern: prolonged muscular contraction and flexion of the pelvic limbs. When these dogs were forced to continue physical activity, MCs migrated between the pelvic limbs, without involvement of thoracic limbs

Pattern III = single-limb pattern: abrupt contraction and flexion of the single limb, without any migration toward other limbs

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21
Q

Muscle cramp is always triggered by prompting the dogs to move: true or false?

A

False

In only 9/14 (64%)

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22
Q

Muscle cramp is always painful: true or false?

A

True

8/14 (58%) dogs were overtly painful with 6/14 (42%) showing mild discomfort.

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23
Q

In canine idiopathic polymyositis the muscles most affected are:

A

proximal muscles

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24
Q

What are the 5 causes of myotonia?

A

Dystrophy
Non-dystrophy
Myotonia congenita: CLCN1
Pseudomyotonia: SLC7A10
Hyperkaliemic periodic paralysis: SCN4A (EQ)
Potassium aggraved myotonia

Attention: feline hypokaliemic periodic polymyopathy causes myalgia and weakness

25
Q

In canine dermatomyositis the muscles most affected are:

A

Temporalis muscle group
Distal muscle group

26
Q

How can the dogs with X-linked myopathy be identified within the first weeks of age ?

A

Serum CK level which may be up to 300 times normal

27
Q

types of muscular dystrophy in cats

A

X-linked dystrophin def : Main Coon, DSH
merosin = laminin alpha2 def: Siamese, Main Coon
sarcoglycane def: DSH

28
Q

specificities of muscular dytrophy in cat

A

muscle hyperthrophy
macroglossia + lingual calcium deposit
scalloped appearence of diaphram (thickening), megaoeso, esophageal stricture

29
Q

treatment for megaoesophagus

A

sildenafil: phosphodiesterase inhib

30
Q

type of muscular dystrophy in dog

A

X-linked DMD:
COL6A1 Landseer
COL6A3 in Lab, Amsatff
LARGE 1 in Lab
LAMA2 Staffordshire bull T
SCG (sarcoglycane) Boston Terrier, miniat Dashund

31
Q

muscular dystrophy in Amsatff

A

mut COL6A3 (Ullrich-like)
onset 6m

progressive weakness, joint contracture, distal joints hyperlaxity

abnormal CK, joint effusion. EMG: PSW and fib in m bellies superficial level.

histo: variab m fiber size, attrophic fibers round shape. Sporadic necrotic fibers undergoing phagocytosis, endomysial fibrosis.

Improvement with rehab, AINS

distinction with COL6A1: distal joint laxity and angular contract, no prolonged sleeping, less severe prog

32
Q

hereditary myotonia: mut, breed, histo

A

mut CLCN1 (Cl channel)
myotonic potential: wax and wane
muscle hypertrophy, warm-up effect
histo: varaition diam fibre

breeds: Miniat Schnauzer, Australian cattle, Lab Ret, American Bulldog, goat

33
Q

diff hypokalieamia cat

A

decrease intake
GI losses
renal losses ( hyperlado, chronic kidney disease, diabetus mellit)
hypercoticism (iatro, one case)
hyperthyroidism
fluid overadministration, overuse od diuretic
hereditary in Burmese (WNK4)

hyperK ->hyperpolaris of sarcolemma resting pot ->refractory to depol

34
Q

myopathy in Labrador

A

musc dystrophy: DMD, COL6A3, LARGE 1

myopath: congenit dyserythropoiesis and polymyopathy myotub myopathy MTM1, centronucl myopath PTPLA1

35
Q

muscle biospy in centronuclear myopathy

A

central nuclei and dark center with sub-sarcolemmal peripheral haloswith oxidative reactions

36
Q

mutations for centronuclear myopathy/myotub myopathy

A

centronuclear:
Labrador PTPLA
Great Dane BIN1
Border Collie DNM2

myotub (X linked):
Labrador, Rottweiler, Boykin spaniel MTM1

37
Q

MNP diseases in main coon

A

spinal muscular atrophy LIXI
myotubular myopathy MTM1
laminin deficient musc dystrophy

38
Q

centronuclear myopathy

A

onset 1-7m
X-linked condition signs earlier, progress more rapidely and more severe signs
centralized nuceli, atrophy type II myofiber, mitochondrial aggregate

39
Q

predisposition immune mediated polymyositis

A

Viszla
Newfoundland
Boxer

40
Q

colagen 6 deficiency in labrador

A

hypometric in all 4 limbs
Hyperextension of both carpi, both tarsi, and both stifles was noted. Range of motion in the carpi and tarsi was moderately reduced in flexion. Normal thoracic withdrawal and myotatic reflexes. Pelvic limb withdrawal and patellar reflexes were mildly reduced. hyperextension of the tarsus and stifle, and flat‐footed stance.

Lesions in the muscle biopsies were myopathic but relatively nonspecific consisting of excessive variability in myofiber size, atrophic fibers having a round shape and of both fiber types, small numbers of myofibers containing internal nuclei, endomysial fibrosis, mild to moderate mononuclear cell infiltrations, and subsarcolemmal accumulations of NADH‐TR positive material. In patients with SSCD, collagen VI is present by immunostaining in the interstitium but specifically absent in the sarcolemma.

other breeds: COL6A3 American Stafford Terrier
COL6A1 Landseer

slow progression

41
Q

Muscles hypertrophied in dystrophin deficient muscular dystrophy?

A

Dog: semi tendinous, semi membranous, sartorius, tongue
Cat: all

42
Q

neoplasia associated with polymyositis

A

bronchogenic carcinoma, lymphoma, myeloid leukemia, tonsillar carcinoma

43
Q

signs sarcocystis infection

A

muscular myositis and ataxia
liver injury as elevated serum enzymes and hyperbilirubinemia
Sarcocystis caninum, and Sarcocystis svanai

Dogs were either singly infected with S. caninum or multiply coinfected with S. caninum and S. svanai

44
Q

limb girdle muscular dystrophy in Boston terriers/ miniature Dashnund

A

SGCD (sarcoglycan) in Boston SGDCA in m Dashund
inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips
marked muscle weakness and atrophy in the shoulder and hips during puppyhood
absence of sarcoglycan-sarcospan complex by immunostaining

Muscle wasting, dysphagia, exercise intolerance, lethargy, and failure to thrive were accompanied by progressive gait abnormalities including a short, stilted gait
muscle degenerative changes and calcific deposits

45
Q

hereditary affection associated with mitochondrial

A

*subacute necrotizing encephalopathy or Leigh syndrome *: SLC19A3 in Alaskan Huskies and in Yorkshire terriers; a cytochrome b variant causing canine spongiform leukoencephalomyelopathy in Australian blue heelers and Shetland sheepdogs; and a NDUFS7 variant in a Jack Russell–Chihuahua mixed-breed dog

Nuclear gene variants associated with canine mitochondrial myopathies
- PDP1 gene encoding the phosphatase enzyme that activates the pyruvate dehydrogenase complex, in Clumber and Sussex spaniels
- SLC25A12 mitochondrial aspartate/glutamate carrier gene that causes an inflammatory myopathy in Dutch shepherd dogs
- ACADVL gene encoding the very-long-chain acryl-CoA dehydrogenase associated with exercise-induced myopathy in German Hunting terriers
- mitochondrial myopathy in Old English Sheepdogs associated with reduced mitochondrial mRNA and decreased cytochrome c oxidase activities in fibroblasts and skeletal muscle
- sensory ataxic neuropathy with mut mitochondrial tRNATyr gene has been described in golden retriever dogs
- cardiomyopathy and arrhythmia have been described in a family of Rhodesian ridgeback dogs with a missense variant in the nuclear gene QIl1
- mitochondrial myopathy in standart Poodle, DYNLT1 retrogene into the nuclear genome

46
Q

Mitochondrial myopathy standart poodle

A

difficulty rising and a stiff, slow gait, worse in the pelvic limbs without ataxia. Patellar reflexes were absent bilaterally and withdrawal reflexes were reduced in EMG demonstrated prolonged insertional activity in all muscles evaluated and frequent positive sharp waves and fibrillation.
increase lactate pre+post exerc
moderate variability in myofiber size. several myofibers contained internal dark blue deposits with the SDH mitochondrial-specific reaction. Approximately 36% of the myofibers were COX-negative and stained blue with the combined COX/SDH reaction

DYNLT1 gene encodes an important regulator of the voltage-dependent anion channel VDAC, a gated porin that permits the transport of peptides, metabolites and ions

stain: Gomori trichrome stain can identify the presence of ragged-red fibers. agged-blue fibers can be detected using the SDH reaction. presence of cytochrome c oxidase (COX, complex IV) negative. mosaic pattern is due to different levels of heteroplasmy

47
Q

Nemaline myopathy in American bulldogs

A

NEB (nebulin) stabilizes the actin thin filament of skeletal muscle sarcomeres

generalized muscle weakness, exercise intolerance,
and tremors beginning at approximately 2 months
myopathy was relatively non-progressive
Atrophy of the cervical and
dorsal thoracic limb muscles was noted with bilateral
hypertrophy of the triceps muscles.

marked variability in myofiber size and generalized
atrophy. od-like
inclusion bodies highlighted with the modified Gomori
trichrome stain

48
Q

Inflammatory Myopathy in Dutch Shepherd Dogs

A

SLC25A12 mitochondrial aspartate-glutamate transporter known as the neuron and muscle specific aspartate glutamate carrier 1. roinflammatory milieu and strong support for oxidative stress
onset 5m

49
Q

Inflammatory Myopathy in the Dutch Kooiker Dog

A

onset 4y, death 5.5y (respond to steroids but deteriorated

dysphagia (40%), a possible (tetra)paresis/stiff gait (92%) and/or a combination of these clinical signs, dyspnea 22%, myalgia 14%
elevated CK (even in dogs with only dysphagia), 2/87 megaeso

EMG: abnormal spont act 91%

moderate-to-marked, chronic-active, diffuse, interstitial and myofibre-directed lymphohistiocytic myositis. The location of the infiltrate was mainly in the endomysium, or a combination of endomysium and perimysium. Myofiber invasion is mostly driven by CD3+>CD8+ T cells and macrophages&raquo_space; CD20+ B-cells

No correlation was found between the type of inflammation, the severity of the inflammation and the CK activity or clinical signs.

breed also predisposed to hereditary necrotizing myelopathy

50
Q

Polymyositis in the Hungarian Vizsla

A

predominantly the muscles of mastication, and only in a limited number are clinical signs of locomotion problems identified

51
Q

Anticorps associated with polymyositis in Boxer/Newfoundland/Visla

A

Boxer dogs and Newfoundlands: sarcolemma-specific autoantibodies

Vizslas: MHC-II haplotype is associated with the disease

52
Q

histopathological feature of polymyositis

A

Histopathological findings in PM consist of a multifocal, mixed predominantly mononuclear cell infiltration of varying severity depending on the sampled muscles and stage of the disease. Degenerative features, including myofibre diameter variations with fibre atrophy, nuclear internalization, necrosis, myofibre loss and fibrosis, and regenerative changes like nuclear rowing, compensatory hypertrophy and regenerating fibres, are frequently seen in the muscles of affected animals

inflammatory infiltrates in PM includes lymphocytes, predominantly of the T-cell type with cytotoxic CD8+ T-cells, in greater number than CD4+ T-cells, and lesser numbers of dendritic cells, macrophages, and B-cells. CD8+ lymphocytes are distributed along the endomysium surrounding necrotic myocytes and invading viable muscle fibres. In contrast, in MMM, CD4+ T-cells and B-cells are more commonly reported distribution is concentrated along the perimysium and perivascularly

53
Q

Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs

A

CLCN1 and PDE4C

54
Q

oil red 0 stain

A

neutral triglycerid, forlipid storage myopathy
in fatty acid oxidation disorder and carnitine deficiency

55
Q

Periodic acid schiff reaction

A

external (basal) lamina, glycogen, myelin
for glycogen storage disorder and polysaccharide storage disorder (amylase resistant)

56
Q

NADH dehydrogenase

A

mitochondria or tubular aggregate (sarcoplasmic reticulum)

57
Q

aci phosphatase reaction

A

lysosome (in macrophage for inflam, deposit in acid maltase deficiency)

58
Q

esterase stain

A

motor endplate

59
Q

mutations centronuclear myopathy

A

DNM2 dynamin 2 aut dom Border Collie
BIN1 aut rec > dom Great Dane
TTN titin aut rec
MTM1 myotubularin X linked Labrador
PTPLA aut rec Labrador

abnomalies in endocytosis

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