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
1
Q
Fascioscapulohumoral MD
A
- IP: Autosomal Dominant
- clinaical: Variable age of onset 10 to 30 years, weakness of facial muscles and shoulders
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
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
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
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
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)
7
Q
HMSN type II
A
- presents later in life
- Neuronal hypertrophy not present
- KIFIB
- Predominately a loss of myelinated axons
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
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
10
Q
Renal failure neuropathy
A
- Results from uremia
- Typically distal and symmetric
- Muscle cramps distal disthesias and diminished DTRs
11
Q
Nutritional peripheral neuropathy
A
N- b1 (thyamine), b6 (pyridoxaine), b12 (Colobamin), E
- B1: neuropathic beriberi
- thyroid dysfunction, respiratory insufficiency
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
13
Q
Traumatic neuropathies
A
- lacerations, avulsions et al
- complicated by misalignment
- compression neuropathy: carpal tunnel
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
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
