PNS Disorders Flashcards by Nathan Maassel

presentation of muscular dystrophy

proximal muscle weakness

cardiomyopathy

pseudohypertrohpy of calves

How well did you know this?

Not at all

Perfectly

carpal tunnel syndrome presentation

nocturnal paresthesia in hand, wrist, forearm

shaking of hand

sensory disturbance of digits 1,2,3 and 1/2 of 4

weakness/atrophy of thenar

How well did you know this?

Not at all

Perfectly

name the inflammatory myopathies

polymyositis - CD8

dermatomyositis - CD4

inclusion boyd myositis - CD8

How well did you know this?

Not at all

Perfectly

familial amyloid neuropathy

AD inherited neuropathy

transthyretin deposits as amyloid, disturbing sensation

How well did you know this?

Not at all

Perfectly

pathology for polymyositis

lymphocytic invasion of non-necrotic fibers

chronic inflammation

fiber necrosis

fiber regeneration

How well did you know this?

Not at all

Perfectly

myotonic dystrophy types, mutation, inheritance

DM1 - 19q CTG repeat w/anticipation

DM2 - 3q CCTG repeat w/out anticipation

muscle wasting

autosomal dominant

How well did you know this?

Not at all

Perfectly

presentation and types of metabolic myopathies

mitochondrial disease

glycogen storage disease

lipid transport disease

cramping, exercise intolerance

infantile onset(can be severe/fatal)

How well did you know this?

Not at all

Perfectly

inheritance of spinal muscular atrophy

autosomal recessive

How well did you know this?

Not at all

Perfectly

kennedy disease presentation

lower motor neuron signs

bulbar muscle signs(swallowing, speech issues)

androgen insensitivity: gynecomastia, impotence, testicular atrophy, infertility

How well did you know this?

Not at all

Perfectly

incluson body myositis presentation

mechanism?

finger flexion and knee extension weakness

atrophy of forearms

more common in men

inflammatory myopathy

CD8 mediated degenerative myopathy

How well did you know this?

Not at all

Perfectly

nerve pairs in SC?

8 cervical

12 thoracic

5 lumbar

5 sacral

1 coccygeal

= 31 nerve pairs

How well did you know this?

Not at all

Perfectly

presentation of charcot marie tooth disease

inverted shampagne leg

atrophy of hand

high foot arch

How well did you know this?

Not at all

Perfectly

dermatomyositis pathology

perivascular, perimysial inflammation

perifasicular atrophy

How well did you know this?

Not at all

Perfectly

pathology and cause of toxic myopathies

fiber necrosis WITHOUT inflammation

lipid lowering agents and ethanol are causes

How well did you know this?

Not at all

Perfectly

motor symptoms/signs of neuropathy

weakness, atrophy, fasciculation, myoclonus, tremor, cramps

How well did you know this?

Not at all

Perfectly

signs of lower motor neuron lesions

weakness

muscle atrophy

fasciculation

How well did you know this?

Not at all

Perfectly

deficits in temperature and pinprick(pain) stimulation suggest…

small fiber/lateral spinothalamic tract lesion/deficit

deficits in light touch, vibration, joint position sense indicate….

problems with large fiber/dorsal columns

inclusion body myositis pathology

chronic inflammation

atrophy

rimmed vesicles

accumulation of proteins

presentation of radiculopathy

radiculopathy = disorder of never ROOT

pain, tingling, numbness, weakness

examination: weakness, atrophy, sensory loss, hypoactive reflexes

pathology of muscular dystrophy

endomysial fibrosis!

connective tissue replacement of muscle

polymyositis presentation

mechanism

inflammatory myopathy

muscle pain, weakness

elevated CPK

mechanism: CD8 Tcell mediated autoimmune myopathy

myasthenia gravis symptoms are exacerbated by….

increased temperature

infection

menses

emotional stress

guillan barre syndrome presentation

ascending paralysis

rapid onset

autonomic symptoms

loss of reflexes

what is the mutation in the inherited form of **ALS**?

SOD1 gene - CuZn superoxide dismutase chr 21 2% of all ALS

vasculitic neuropathy

axonal destruction via lack of nutrition(vasculitis) distribution of neuropathy is more random than classic stocking/glove

presentation of myasthenia gravis

proximal weakness, bulbar and ocular weakness, _fatigability_ _gets worse w/repetition_

autonomic symptoms/signs of neuropathy

orthostatic symptoms GU/GI dysfunciton tonic pupils absence of HR variation w/breathing

hereditary neuropathy with liability for pressure palsy

nerves are more prone to pressure palsys(tingling after pressure on nerve) sensory neuropathy symptoms **demyelinating**, **_inherited_** neuropathy **Autosomal dominant** mutation in PMP22

signs of **upper** motor neuron lesions

weakness spasticity increased tendon reflexes pathological reflexes

mutation in **congenital myopathy** unique **pathology**?

RYR1 mutation(predisposed to malignant hyperthermia) nemaline myopathy - rods

**muscular dystrophy** _types_ and _severity_

**duchenne** - severe **becker** - milder severity is based on dystrophin protein absence; in duchenne, there is complete absence of dystrophin whereas becker retains a little

name the diseases affecting the NMJ

lambert eaton myasthenia gravis botulism

**charcot marie tooth** disease inheritance/mutation

**type 1a** is the _most common demyelinating disease_ 17p11.2 duplication in the **PMP22** gene(peripheral myelin protein) **_autosomal dominant_**

pathology of charcot marie tooth disease

onion bulbs chronic demyelination

**dermatomyositis** presentation mechanism?

**heliotrope rash**(blue/purple eyelids) **rash** on face(_malar_), neck, anterior chest, knees, elbows, malleoli **gottron's sign**: raised violaceous rash/papules **@ knuckles**(MP, PIP, DIP joints) muscle weakness elevated CPK inflammatory myopathy CD4 mediated autoimmune vasculitis/myopathy

**sensory** symptoms of a **peripheral neuropathy**

**numbness** **paresthesia** - creeping, crawling, prickling, tingling **dysesthesia** - burning, shooting pain **allodynia** - pain out of proportion **hyperpathia** - prolonged painful response to repetetive stimuli

presentation of lambert eaton

proximal muscle weakness, bulbar and occular weakness, fatigability, reduced tendon reflex, autonomic dysfunciton transient strength improvement with brief exercise associated with SSLC

**limb-girdle syndrome**

progressive muscle wasting of predominantly hip and shoulder mutation in proteins on dystrophin axis

presentation of **spinal muscular atrophy**

lower motor neuron signs children fasiculations in tongue

Name the motor neuron disorders

ALS Spinal muscular atrophy kennedy disease

chronic inflammatory demyelinating polyneuropathy(CIDP)

essentially the **chronic** form of guillan barre chronic demyelination so - onion bulbs on pathology