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MSI > Neuropathies/Myopathies > Flashcards

Neuropathies/Myopathies Flashcards

0
Q

Guillain barre syndrome

A
  • Autoimmune demyelination
  • Associated with Campylobacter, cytomegalovirus, Epstein-Barr virus, mycoplasma pneumonia a, vaccinations
  • T-cell mediated, Progressive ascending paralysis,
  • Supportive treatment
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1
Q

Fascioscapulohumoral MD

A
  • IP: Autosomal Dominant

- clinaical: Variable age of onset 10 to 30 years, weakness of facial muscles and shoulders

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2
Q

Chronic inflammatory demyelinating polyradiculopathy

A
  • Generally presentation is subacute for chronic and relapses and remits
  • Symmetric mixed sensorimotor polyneuropathy
  • “onion bulb” recurrent demyelinating/demyelinating condition
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3
Q

Leprosy; Hansens disease

A
  • lepromatous :Invasion of Schwann cells by Mycobacterium leprae
  • tuberculoid: Invasion of macrophages by Mycobacterium leprae
  • Infected cells cause local inflammatory response impinging on sensory nerves
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4
Q

Diphtheria

A
  • AB exotoxin damages DCML after it gains entry into CNS
  • Selected demyelination of axons that extend into adjacent anterior posterior roots as well is into mixed sensorimotor not
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5
Q

Vericella zoster virus

A
  • Infection after chickenpox seeds the sensory dermatomes
  • Most commonly and thoracic or trigeminal
  • Can result in the Axonal destruction and loss associated with mononuclear inflammation
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6
Q

Charcot-Marie-tooth

A
  • semental trisomy of PMP22
  • perineal nerve atrophy (distal muscle weakness)
  • aka HMSN type I (Hereditary motor and sensory neuropathy)
  • Hypertrophic neuropathy (including onion bulb)
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7
Q

HMSN type II

A
  • presents later in life
  • Neuronal hypertrophy not present
  • KIFIB
  • Predominately a loss of myelinated axons
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8
Q

Auto Recessive

  • Manifest by delay in developmental milestones
  • Unlike HNMS I/II, muscular atrophy extends to both trunk and limb muscles
  • Onion Bulb formation is seen
A

Dejerine-Sottas neuropathy

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9
Q
  • Distal sensorimotor and autonomic are most commonly involved oftentimes together
  • Involves both polyol pathway and nonenzymatic glycation of proteins
  • Endoneurial arterioles show thickening hyalinization and intense periodic acid Schiff positivity
A

Diabetic peripheral neuropathy

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10
Q

Renal failure neuropathy

A
  • Results from uremia
  • Typically distal and symmetric
  • Muscle cramps distal disthesias and diminished DTRs
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11
Q

Nutritional peripheral neuropathy

A

N- b1 (thyamine), b6 (pyridoxaine), b12 (Colobamin), E

  • B1: neuropathic beriberi
  • thyroid dysfunction, respiratory insufficiency
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12
Q

Neuropathies associated with malignancy

A
  • brachial plexopathy: neoplasm in apex of lung
  • obturator palsy: pelvic malignant neoplasm
  • CN nerve palsys: intercranial neoplasm
  • most commonly associated with small cell lung carcinoma associated with paraneoplastic syndrome
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13
Q

Traumatic neuropathies

A
  • lacerations, avulsions et al
  • complicated by misalignment
  • compression neuropathy: carpal tunnel
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14
Q

Spinal muscular atrophy

A
  • Autosomal recessive (aka) werding hoffman
  • SMN1 gene mutation (req for neuronal survival)
  • large numbers of atrophic fibers (very small unlike the angular end fibers of adult spinal atrophy)
  • panfascicular atrophy
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15
Q
  • Onset within the first four months of light
  • “Floppy baby”
  • Typically death within three years
A

Werdig-Hoffman disease (aka spinal muscular atrophy)

16
Q
  • Mutation on Xp21 region
  • dystrophin mutation (crosslinks actin into Z-discs)
  • Gowers maneuver
  • calf pseudohypertrophy
  • increased phosphocreatine kinase
A

XL DMD

17
Q
  • variation in muscle fiber size
  • internalized nuclei
  • enlarged, rounded, hyaline fibers
A

DMD histopathology

18
Q

Backers muscular dystrophy

A
  • very similar to DMD, later presentation

- frequently associated with cardiac disease

19
Q
  • large CTG repeats
  • anticipation
  • DMPK
A
  • myotonic dystrophy
20
Q
  • ring fibers (subsarcolemmic band of cytoplasm)
  • sarcoplamic masses
  • red/green bifuringince
A
  • myotonic dystrophy
21
Q
  • frontal balding
  • gonadal atrophy
  • cardiomyopathy
  • decreased serum IgG
  • glucose tolerance
A
  • myotonic dystrophy
22
Q
  • Hypermetabolic state characterized by tachycardia, tachypnea, muscle spasms and hyperpyrexia
A
  • malignant hyperthermia in response to inhaled halogenated anesthetics and succinylcholine
  • ion channelopathy
23
Q
  • Floppy with joint contractures (arthrogryposis)

- Accumulation of sub-sarcolemmal spindle-shaped particles

A

congenital myotonia: nemaline myotonia

sub-sarcolemmal spindle-shaped particles: nemaline rods

24
Q
  • heliotropic rash, discoloration/edema of upper eyelids
  • Grotton’s lesions
  • proximal muscle weakness
  • Associated with neoplasms
A

Dermatomyocytis

25
Q
  • Heliotropic rash and proximal muscle weakness
  • Abdominal pain
  • Mucosal ulceration and hemorrhage
A
  • Juvenile dermatomyositis
26
Q
  • Symmetrical proximal muscle weakness
  • Inflammation of heart, lungs and blood vessels
  • No cutaneous involvement
A
  • Polymyositis
  • Not associated with cancers
  • CD8 and macrophage infiltration positive anti-nuclear antibodies
27
Q
  • Asymmetric distal muscle weakness especially extensors of the knee and flexors of the wrist and fingers
  • CD8 cytotoxic infiltration with macrophages near muscle fibers
A

Inclusion body myositis

- Immunosuppressive therapy not affective

28
Q
  • exophthalmic ophthalmoplegia
  • Myofibrilar necrosis and regeneration
  • Periorbital edema
A
  • Thyrotixic myopathy
29
Q
  • Type 2 fiber atrophy
  • Loss of acetylcholine receptors postsynaptically
  • Often clinically presents earliest with diploplia and ptosis
  • Often associated with thymomas
A

Myasthenia gravis

30
Q
  • Paraneoplastic process involving the calcium channels

- Condition shows no response to acetylcholinesterase inhibitors

A

-Lambert-eaton myasthenic syndrome

MSI (9 decks)

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