MNP - myopathies Flashcards

Question

In canine dermatomyositis the muscles most affected are:

Answer 1

Temporalis muscle group Distal muscle group

Answer 2

Serum CK level which may be up to 300 times normal

Answer 3

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

Answer 4

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

Answer 5

sildenafil: phosphodiesterase inhib

Answer 6

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

Answer 7

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, atrophic 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**

Answer 8

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

Answer 9

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

Answer 10

musc dystrophy: DMD, COL6A3, LARGE 1 myopath: congenit dyserythropoiesis and polymyopathy myotub myopathy MTM1 centronucl myopath PTPLA1

Answer 11

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

Answer 12

centronuclear: Labrador PTPLA Great Dane BIN1 Border Collie DNM2 myotub (X linked): Labrador, Rottweiler, Boykin spaniel MTM1

Answer 13

spinal muscular atrophy LIXI myotubular myopathy MTM1 laminin deficient musc dystrophy

Answer 14

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

Answer 15

Viszla Newfoundland Boxer

Answer 16

6m hypometric in all 4 limbs Hyperfelxion of carpi, tarsi, and stifles. Normal thoracic withdrawal and myotatic reflexes. **Pelvic limb withdrawal and patellar reflexes mildly reduced**. 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**. 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

Answer 17

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

Answer 18

bronchogenic carcinoma, lymphoma, myeloid leukemia, tonsillar carcinoma

Answer 19

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

Answer 20

**SGCD** (sarcoglycan) in Boston **SGDCA** in m Dashund inherited autosomal myopathies that preferentially affect voluntary muscles of the **shoulders and hips** 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

Answer 21

*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

Answer 22

**Patellar reflexes were absent bilaterally and withdrawal reflexes were reduced** increase **lactate** pre+post exerc **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**. **variability in myofiber size**. several myofibers contained **internal dark blue deposits with the SDH mitochondrial-specific reaction**.

Answer 23

**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**

Answer 24

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

Answer 25

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 >> 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**

Answer 26

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

Answer 27

Boxer dogs and Newfoundlands: sarcolemma-specific autoantibodies Vizslas: MHC-II haplotype is associated with the disease

Answer 28

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**

Answer 29

CLCN1 and PDE4C

Answer 30

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

Answer 31

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

Answer 32

mitochondria or tubular aggregate (sarcoplasmic reticulum)

Answer 33

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

Answer 34

motor endplate

Answer 35

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

MNP - myopathies Flashcards

(59 cards)