Neuropathies/Myopathies Flashcards Preview

MSI > Neuropathies/Myopathies > Flashcards

Flashcards in Neuropathies/Myopathies Deck (31):
0

Fascioscapulohumoral MD

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

1

Guillain barre syndrome

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

2

Chronic inflammatory demyelinating polyradiculopathy

- Generally presentation is subacute for chronic and relapses and remits
- Symmetric mixed sensorimotor polyneuropathy
- "onion bulb" recurrent demyelinating/demyelinating condition

3

Leprosy; Hansens disease

- 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

Diphtheria

- 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

Vericella zoster virus

- 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

Charcot-Marie-tooth

- 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

HMSN type II

- presents later in life
- Neuronal hypertrophy not present
- KIFIB
- Predominately a loss of myelinated axons

8

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

Dejerine-Sottas neuropathy

9

- 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

Diabetic peripheral neuropathy

10

Renal failure neuropathy

- Results from uremia
- Typically distal and symmetric
- Muscle cramps distal disthesias and diminished DTRs

11

Nutritional peripheral neuropathy

N- b1 (thyamine), b6 (pyridoxaine), b12 (Colobamin), E
- B1: neuropathic beriberi
- thyroid dysfunction, respiratory insufficiency

12

Neuropathies associated with malignancy

- 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

Traumatic neuropathies

- lacerations, avulsions et al
- complicated by misalignment
- compression neuropathy: carpal tunnel

14

Spinal muscular atrophy

- 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

- Onset within the first four months of light
- "Floppy baby"
- Typically death within three years

Werdig-Hoffman disease (aka spinal muscular atrophy)

16

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

XL DMD

17

- variation in muscle fiber size
- internalized nuclei
- enlarged, rounded, hyaline fibers

DMD histopathology

18

Backers muscular dystrophy

- very similar to DMD, later presentation
- frequently associated with cardiac disease

19

- large CTG repeats
- anticipation
- DMPK

- myotonic dystrophy

20

- ring fibers (subsarcolemmic band of cytoplasm)
- sarcoplamic masses
- red/green bifuringince

- myotonic dystrophy

21

- frontal balding
- gonadal atrophy
- cardiomyopathy
- decreased serum IgG
- glucose tolerance

- myotonic dystrophy

22

- Hypermetabolic state characterized by tachycardia, tachypnea, muscle spasms and hyperpyrexia

- malignant hyperthermia in response to inhaled halogenated anesthetics and succinylcholine
- ion channelopathy

23

- Floppy with joint contractures (arthrogryposis)
- Accumulation of sub-sarcolemmal spindle-shaped particles

congenital myotonia: nemaline myotonia
sub-sarcolemmal spindle-shaped particles: nemaline rods

24

- heliotropic rash, discoloration/edema of upper eyelids
- Grotton's lesions
- proximal muscle weakness
- Associated with neoplasms

Dermatomyocytis

25

- Heliotropic rash and proximal muscle weakness
- Abdominal pain
- Mucosal ulceration and hemorrhage

- Juvenile dermatomyositis

26

- Symmetrical proximal muscle weakness
- Inflammation of heart, lungs and blood vessels
- No cutaneous involvement

- Polymyositis
- Not associated with cancers
- CD8 and macrophage infiltration positive anti-nuclear antibodies

27

- Asymmetric distal muscle weakness especially extensors of the knee and flexors of the wrist and fingers
- CD8 cytotoxic infiltration with macrophages near muscle fibers

Inclusion body myositis
- Immunosuppressive therapy not affective

28

- exophthalmic ophthalmoplegia
- Myofibrilar necrosis and regeneration
- Periorbital edema

- Thyrotixic myopathy

29

- Type 2 fiber atrophy
- Loss of acetylcholine receptors postsynaptically
- Often clinically presents earliest with diploplia and ptosis
- Often associated with thymomas

Myasthenia gravis

30

- Paraneoplastic process involving the calcium channels
- Condition shows no response to acetylcholinesterase inhibitors

-Lambert-eaton myasthenic syndrome