Large animal neurology Ch 31 pt II Flashcards
(118 cards)
1
Q
What is the age range when calves affected by central and peripheral axonopathy show signs?
A
1–4 months of age
2
Q
What syndrome is referred to as ‘Syndrome des veaux tourneurs’?
A
Turning calve syndrome
3
Q
Which gene mutation is associated with central and peripheral axonopathy in calves?
A
SLC25A46 gene
4
Q
Which breed of cattle is primarily affected by progressive myelopathy?
A
Murray Gray
5
Q
What type of degeneration is associated with progressive myelopathy?
A
Fiber degeneration and demyelination
6
Q
What is the typical outcome of bovine spinal muscular atrophy?
A
Progressive, lethal
7
Q
What is the age range when signs of bovine spinal muscular atrophy typically begin?
A
Birth to 8 weeks
8
Q
What mutation is a candidate for causing bovine spinal muscular atrophy?
A
FVT1 gene mutation
9
Q
What is the primary clinical feature of motor neuron disease in Romney lambs?
A
Progressive weakness
10
Q
What genetic mutation is associated with motor neuron disease in Romney lambs?
A
Mutation in AGTPBP1 gene
11
Q
What type of material accumulates in motor neurons in shaker calf syndrome?
A
Neurofilamentous material
12
Q
What is a common outcome for calves affected by shaker calf syndrome?
A
Lethal inheritance
13
Q
What is myofibrillar hypoplasia in piglets commonly referred to as?
A
Spreadleg syndrome or splayleg syndrome
14
Q
What percentage of piglets in the UK are estimated to be affected by myofibrillar hypoplasia?
A
0.4%
15
Q
What is a notable characteristic of myofibrillar hypoplasia in affected piglets?
A
Inability to stand on pelvic limbs
16
Q
What nutritional deficiencies may be associated with myofibrillar hypoplasia?
A
Methionine and choline
17
Q
What is the clinical outcome for piglets affected by myofibrillar hypoplasia if nourished?
A
Pelvic limbs strengthen and return to function
18
Q
What type of vacuoles were observed in Angora goat kids with progressive paresis?
A
Intracytoplasmic vacuoles
19
Q
What species and breed is the condition of occipitoatlantoaxial malformations more commonly diagnosed in?
A
Arabian foals
20
Q
What genetic defect might be associated with occipitoatlantoaxial malformations in Arabian foals?
A
2.7 kb deletion between Hoxd4 and Hoxd3
21
Q
What surgical procedures can be attempted for individual cases of bral lesions?
A
Surgical decompression and fixation
These procedures may not be effective for all cases.
22
Q
Which breeds of sheep have been described with cervicothoracic subluxation?
A
Suffolk, Corriedale, Merino, Columbia
These breeds are found in the UK, Australia, New Zealand, and USA.
23
Q
What is the underlying hypothesis for neonatal and adult-onset clinical syndromes in sheep?
A
Perinatal myopathy
This is thought to be the precursor lesion for various conditions.
24
Q
What is Bovine Complex Vertebral Malformation (BCVM)?
A
A congenital, inherited disease in Holstein cattle characterized by growth retardation and vertebral malformations
BCVM is linked to a mutation in the SLC35A3 gene.
25
What is the consequence of the mutation in the SLC35A3 gene in cattle?
Autosomal recessive disorder leading to BCVM
## Footnote
This disorder affects the vertebrae and can lead to high fetal mortality.
26
What factors contribute to congenital chondrodystrophy in beef cattle?
Genetic, infectious, toxic, nutritional factors
## Footnote
Maternal nutritional deficiency is a common hypothesis.
27
What are some clinical presentations of congenital chondrodystrophy in calves?
Paraplegic at birth, progressive paraparesis, ataxia
## Footnote
These conditions are associated with spinal cord compressions.
28
What is myelodysplasia?
A condition involving spinal dysraphism and various vertebral anomalies
## Footnote
It is most commonly recorded in calves.
29
What are the types of split spinal cord malformations?
Type-I (diastematomyelia), Type-II (two hemicords with single dural coat)
## Footnote
These classifications help in understanding the severity and treatment options.
30
What is congenital stationary night blindness (CSNB)?
A congenital and nonprogressive visual deficit affecting low light vision
## Footnote
It was first characterized in Appaloosa horses.
31
What genetic factors are associated with CSNB in horses?
Homozygosity for leopard spotting complex (LP)
## Footnote
This genetic association has been observed primarily in Appaloosa and Miniature Horse breeds.
32
What is the likely cause of congenital sensorineural deafness in American Paint horses?
Mutation in the endothelin receptor type B (EDNRB) gene
## Footnote
This mutation is associated with both deafness and white coat markings.
33
What are some environmental causes of congenital malformations in calves?
BVDV, neurotropic arboviruses
## Footnote
These factors must be considered alongside genetic causes.
34
What is the association between the EDNRB gene and Paint horses?
A mutation in the endothelin receptor type B (EDNRB) gene is strongly associated with deafness in Paint horses and lethal white foal syndrome.
## Footnote
This gene mutation affects melanocyte function, leading to both deafness and white coat markings.
35
Which genes are involved in the splashed white coat color patterns in horses?
The genes involved are microphthalmia-associated transcription factor (MITF) and paired box gene 3 (PAX3).
## Footnote
These genes are crucial for melanocyte development.
36
In which breeds should congenital sensorineural deafness be considered?
Breeds to consider include Appaloosa, Paint, Piebald, Skewbald, and Clydesdale.
## Footnote
These breeds often have extensive white markings and/or blue irises.
37
What is the German White Fleckvieh syndrome?
It is a monogenic autosomal dominantly inherited syndrome in Fleckvieh cattle associated with hypopigmentation, heterochromia irises, colobomatous eyes, and bilateral total hearing loss.
## Footnote
A missense mutation in the bovine MITF gene is responsible for this syndrome.
38
What percentage of llamas and alpacas with white coats and blue irises experience bilateral sensorineural deafness?
78% of llamas and alpacas with pure white coats and blue iris pigment experience bilateral sensorineural deafness.
## Footnote
This indicates a genetic correlation between melanocyte maturation and deafness.
39
What condition has been reported in white Chinese Rongchang pigs?
Profound sensorineural deafness associated with loss of cochlear hair cells and deficiency of melanocytes in the cochlear duct.
## Footnote
A mutation in the melanocyte-specific promoter of the MITF gene is implicated.
40
What is divergent strabismus in cattle and in which breeds is it common?
Divergent strabismus can be unilateral or bilateral and may be an inherited defect in Highland and Holstein cattle.
## Footnote
It is characterized by abnormal eye alignment.
41
What is pendular nystagmus?
Pendular or oscillatory nystagmus refers to rapid involuntary eye saccades with equal speed in both directions.
## Footnote
It has been noted in Holstein and Jersey dairy cows, among others.
42
What causes congenital flaccid mandible in newborn calves and lambs?
It usually follows anterior presentation, dystocia, and assisted delivery, possibly associated with neuromyopathy.
## Footnote
Some recover completely, while others may have muscle atrophy.
43
What is spastic syndrome in adult cattle?
Spastic syndrome involves spontaneous and reflex fluctuating hypertonia of extensor pelvic limb and thoracolumbar musculature.
## Footnote
It is also known as Barn Cramps or Standing Disease.
44
What is the heritability estimate for spastic syndrome in North American Holstein cattle?
The heritability estimate is reported to be 0.26.
## Footnote
This suggests a genetic component to the disorder.
45
What is spastic paresis of calves also known as?
It is also referred to as Elso Heel, Straight Hock Syndrome, and Contraction of the Achilles Tendon.
## Footnote
This syndrome can occur in various breeds and is first seen at birth or within 12 months of age.
46
What are the types of spastic paresis classified by muscle contraction?
Types are:
* Type-G: Dominantly contracted gastrocnemius
* Type-Q: Dominantly contracted quadriceps
* Type-M: Mixed muscle contraction.
## Footnote
Each type presents differently in terms of limb position and movement.
47
What is the proposed mechanism underlying spastic paresis?
The mechanism is thought to be an overactive myotatic reflex.
## Footnote
Evidence suggests an imbalance of serotonergic versus dopaminergic neurotransmitter activity may contribute.
48
What histological changes were studied in calves affected by spastic paresis?
Neurons in the medullary reticular formation and possibly in the red nucleus were smaller.
## Footnote
These neurons likely control hindlimb somatic muscles.
49
What is the heritability of spastic paresis in cattle?
Low heritability.
## Footnote
Certain famous sires have been incriminated as genetic carriers.
50
Which bulls have been identified as genetic carriers of spastic paresis?
* Elso II-34 (East Friesland breed)
* Adema-197 (Dutch breed)
## Footnote
These bulls are linked to the condition known as Elso Heel.
51
What clinical conditions can be confused with spastic paresis?
* Gonitis
* Generalized arthritis
* Upward patellar fixation
* Arthrogryposis
* Partial sciatic paresis
* Congenital laxity and overextension of the hock joints.
## Footnote
These conditions must be ruled out for accurate diagnosis.
52
What treatment has >80% effectiveness for spastic paresis?
Partial or total tibial neurectomy.
## Footnote
This procedure is especially effective for type-G and type-M forms.
53
What medical treatment is claimed to be curative in spastic paresis?
Lithium salt 20–80 mg/kg/d or 0.2 mmol/kg/d for 2–4 weeks.
## Footnote
This claim suggests a 75% cure rate if treatment is started early.
54
What is familial neuropathy in Gelbvieh cattle characterized by?
Intermittent but progressive pelvic ataxia and paraparesis.
## Footnote
This condition can progress to recumbency over several days to 20 months.
55
What kind of degeneration was observed in calves with familial neuropathy?
Wallerian-like neuronal fiber degeneration.
## Footnote
This degeneration was present in dorsal and ventral nerve roots.
56
What unique case was recorded in a lamb related to congenital hypomyelination?
Congenital hypomyelination sensory neuropathy.
## Footnote
The lamb showed ataxia and tremor from birth.
57
What is arthrogryposis multiplex congenita?
A congenital syndrome with multiple, rigid, curved, or sickle-shaped joints.
## Footnote
It occurs in all large animal species, especially in newborn ruminants and piglets.
58
What is the frequency of crooked calf syndrome in some farms in the Western United States?
Up to 40%.
## Footnote
This syndrome is often associated with first calf heifers.
59
What are some potential causes of arthrogryposis?
* Reduced fetal movement in utero
* Inherited factors
* Maternal ingestion of toxic plants
* Viral infections
## Footnote
Specific toxins include anagyrine from lupines.
60
Which viruses have been linked to outbreaks of arthrogryposis?
* Akabane virus
* Coxsackievirus-A2
## Footnote
These viruses affect fetal neurons and muscle cells, leading to joint mobility restrictions.
61
What is the primary toxin associated with crooked calf disease?
Quinolizidine alkaloid, anagyrine.
## Footnote
This toxin is found in certain species of lupines.
62
How is myotonia defined?
Continued contraction of muscle after the stimulus has ceased.
## Footnote
This can lead to visible and palpable muscle knots.
63
What is myotonia congenita?
A form of myotonia present from birth with minimal or no myopathic histologic change.
## Footnote
It is related to membrane and sarcoplasmic defects in electrolyte conductance.
64
What is the difference between classical myotonia and paradoxical myotonia?
Classical myotonia improves with exercise, while paradoxical myotonia worsens with exercise.
## Footnote
This distinction is important for clinical diagnosis.
65
What characterizes the syndrome of paradoxical myotonia?
Myotonia accompanied by weakness and variable but prominent myopathic findings
## Footnote
Also referred to as myotonic dystrophy or dystrophic myotonia.
66
What is the typical electrical activity seen on needle electromyography for myotonia?
High-frequency electrical activity that waxes and wanes in frequency and amplitude
## Footnote
This is often likened to a revving motorcycle sound.
67
How do neuromyotonic discharges differ from myotonic discharges?
Neuromyotonic discharges do not wax and wane and may change in amplitude abruptly
## Footnote
They resemble the sound of a motorboat or motorcycle.
68
What is myokymia?
Spontaneous rippling muscle contractions reflecting spontaneous electrical myokymic potentials
## Footnote
These have rhythmic firing of grouped motor unit action potentials.
69
What is electrical pseudomyotonia?
High-frequency discharge that tends to wane and stop abruptly
## Footnote
Accompanied by fibrillation potentials and positive waves.
70
What is myotonia congenita?
A rare disorder characterized by muscle stiffness and myotonic seizures, best studied in goats
## Footnote
It is an autosomal dominant condition.
71
What breed of goat is primarily associated with myotonia congenita?
Fainting goats
## Footnote
They are known for their inability to jump out of low fenced enclosures.
72
What genetic mutation causes myotonia congenita in goats?
An alanine to proline substitution in the C-terminal residue of the gClC-1 gene
## Footnote
This is a channelopathy affecting skeletal muscle Cl− channels.
73
What is the inheritance pattern of myotonia congenita in water buffalo?
Caused by a substitution SNP in exon-3 (c.396C>T) in the CLCN1 gene
## Footnote
Similar symptoms to those seen in goats, including action myotonia.
74
Which animals exhibit myotonic dystrophy and myopathy?
Horses, including breeds like Thoroughbred, Standardbred, and Arabian
## Footnote
Affected horses show stiffness and weakness with difficulty rising.
75
What is the clinical diagnosis of myotonia confirmed by?
Needle EMG studies revealing spontaneous and evocable electrical discharges
## Footnote
High-frequency discharges can be likened to a revving motorcycle.
76
What differentiates myotonic dystrophy from myotonia congenita?
Myotonic dystrophy exhibits step-like, on/off high-frequency discharges
## Footnote
These discharges are often stimulated by voluntary movement.
77
What is Ovine Muscular Dystrophy?
An inherited myopathy of Merino sheep in Australia characterized by progressive stiffness
## Footnote
Begins in 1–2% of lambs aged 3 weeks to 6 months.
78
What genetic mutation has been identified in Ovine Muscular Dystrophy?
A single base deletion intron 13 in the TNNT1 gene
## Footnote
This leads to impaired Ca++-induced muscle contraction.
79
What does Congenital Myopathy of Beulah Speckled-face Lambs present with?
Affected lambs are recumbent and stiff at birth with hyperextended hocks
## Footnote
Myopathic lesions are seen in diaphragmatic and intercostal muscles.
80
What is the suspected cause of Kyphosis in Jersey Calves?
A form of inherited muscular dystrophy
## Footnote
Characterized by progressive thoracolumbar kyphosis and abnormal gait.
81
What are common findings in congenital myopathy histology?
Presence of nemaline rods, proliferated internal nuclei, and intracytoplasmic vacuoles
## Footnote
These findings are indicative of congenital myopathy.
82
What is phosis in Jersey Calves suspected to be?
A form of inherited muscular dystrophy
## Footnote
Biochemical and genetic testing is necessary for better characterization of the disease.
83
What is the clinical presentation of Congenital Myopathy in Braunvieh × Brown Swiss Calves?
Progressive weakness leading to recumbency within 2 weeks of birth
## Footnote
Distinctive myopathic histological findings include nemaline rods, proliferated internal nuclei, and crescent-shaped inclusions.
84
What breeds are affected by hereditary muscular dystrophy that affects the diaphragm?
Meuse-Rhine-Yssel and Holstein–Friesian breeds
## Footnote
The clinical syndrome includes recurrent ruminal tympany in adult cows aged 4–7 years.
85
What characterizes Pietrain Creeper Syndrome?
Progressive muscular weakness and intermittent trembling in pelvic limbs
## Footnote
Starts at 3 weeks of age and ends at about 3 months with recumbency.
86
What is Hyperkalemic Periodic Paralysis (HYPP) in horses?
An autosomal dominant disease affecting mainly male Quarter Horses aged 2–3 years
## Footnote
Homozygous animals are more severely affected than heterozygotes.
87
What are common signs of Hyperkalemic Periodic Paralysis in horses?
Muscle trembling, stridor, and episodes of recumbency
## Footnote
Episodes can be precipitated by exercise, stress, and transportation.
88
What is the genetic cause of Hyperkalemic Periodic Paralysis?
A missense point mutation in the α-subunit of the equine adult sodium channel SCN4A gene
## Footnote
This mutation leads to a phenylalanine to leucine substitution.
89
What is the prevalence of the heterozygote form of the mutation in Quarter Horses?
Estimated to be 4.4%
## Footnote
Carrier rates have changed over time due to testing and selection pressure.
90
What is a severe congenital myasthenic syndrome documented in Red Brahman calves?
Myasthenia gravis
## Footnote
Affected calves develop rapidly progressive muscle weakness at 3–4 weeks of age.
91
What mutation causes myasthenia gravis in Red Brahman calves?
A homozygous 20 base pair deletion (470del20) in the gene for the bovine ε-subunit of the acetylcholine receptor
## Footnote
This leads to a prevalence of 1–2% in Brahman cattle in South Africa.
92
What breeds are affected by porcine stress syndrome?
German and Belgian Landrace, Duroc, Large White, Hampshire, Yorkshire, Berkshire, Dutch and German Pietrain, and Poland China pigs
## Footnote
Rates of occurrence can be as high as 60–90%.
93
What is malignant hyperthermia in pigs associated with?
A pharmacogenetic disorder of skeletal muscle
## Footnote
It is a hypermetabolic response to anesthetic agents and stressors.
94
What mutation causes malignant hyperthermia in pigs?
A single point mutation in the ryanodine receptor gene RYR-1
## Footnote
This leads to an autosomal recessive inherited susceptibility.
95
What is Equine Polysaccharide Storage Myopathy (PSSM1)?
An autosomal recessive disorder in Quarter Horses and over 30 breeds
## Footnote
It results in susceptibility to recurrent exertional rhabdomyolysis.
96
What genetic mutation is associated with Equine type 1 polysaccharide storage myopathy (PSSM1)?
A missense mutation in the equine glycogen synthase (GYS1) gene
## Footnote
This leads to excessive glycogen and amylopectate inclusions in muscle.
97
What are signs of PSSM1 in horses?
Short stride length, firm musculature, stiffness, pain, sweating, and reluctance to move
## Footnote
Signs typically become evident at 2 or 3 years of age.
98
What distinguishes type-2 PSSM from PSSM1?
Clinical signs of muscle disease with histologic evidence of no or mild myopathic changes
## Footnote
Type-2 PSSM should be used when there are excessive polysaccharide inclusions without severe myopathic changes.
99
What are cytologic myopathic changes associated with polysaccharide storage?
Proliferated and internal sarcolemmal nuclei, excessive and aggregates or cores of sarcoplasmic polysaccharide (glycogen)
100
What is imperative in diagnosing PSSM?
Histologic examination of a suitably prepared biopsy of a Type-II predominant muscle
101
What abnormality is indicated by positive ubiquitin staining in polysaccharide-associated myopathy?
Abnormal protein degradation
102
What are the clinical signs associated with equine PSSM1 and PSSM2?
Hypometric gait, short-stride gait, reluctance to move, variable thoracolumbar postures
103
What dietary modifications are recommended for managing PSSM?
Consistent exercise, <20% lipid energy source, reduction of soluble carbohydrate content
104
What medication may help reduce the outcome of myolysis in PSSM?
Dantrolene sodium
105
What is the other main glycogen storage metabolic myopathy in equids?
Glycogen-Branching Enzyme Deficiency (GBED)
106
In which breeds is GBED primarily recognized?
Quarter Horse and Paint Horse fetuses and newborn foals
107
What genetic mutation causes Glycogen-Branching Enzyme Deficiency?
A nonsense point mutation in codon 34 of the GBE1 gene
108
What are some clinical signs of GBED?
Fetal death, sudden neonatal death, flexural limb deformity, seizures, cardiorespiratory dysfunction
109
What are common findings in affected foals with GBED?
Leucopenia, elevated serum activities of muscle enzymes
110
What histological findings are associated with GBED?
Accumulation of PAS positive globular and crystalline intracellular masses
111
What testing is recommended for GBED mutation?
Testing hair (follicles) from affected foals and their unaffected heterozygous parents
112
What inheritance patterns can mitochondrial myopathy follow?
Recessive, dominant, X-linked, and mitochondrial inheritance
113
What is a common phenotype of mitochondrial myopathy?
Myopathic syndrome demonstrated with exercise and lactic acidosis
114
What specific mitochondrial enzyme deficiency was detected in a case of exercise intolerance in a horse?
NADH coenzyme Q reductase
115
What is equine familial isolated hypoparathyroidism also known as?
Idiopathic hypocalcemia
116
What clinical signs are associated with equine familial isolated hypoparathyroidism?
Tetany, seizures, tachycardia, hyperhidrosis, diarrhea, stiff gait
117
What blood chemistry findings are indicative of functional hypoparathyroidism?
Low calcium, high phosphorus, low or normal parathyroid hormone concentrations
118
What genetic variant causes equine familial isolated hypoparathyroidism?
A nonsense variant in the RAPGEF5 gene
