Disorders of Anterior Horn/Peripheral Nerves & NMJ Flashcards

1
Q

Signs/symptoms of upper motor neuron disorders

A
  • spastic tone
  • hyperactive tendon reflexes
    • pathologic reflexes (Babinski)
  • emotional lability (inappropriate laughing and crying)
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2
Q

Signs/symptoms of lower motor neuron disorders

A
  • muscle atrophy
  • fasciculation
  • diminished tone (flaccidity)
  • reduced or absent reflexes
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3
Q

Signs/symptoms of non-motor (sensory or autonomic) peripheral nerve disorders

A
  • sensory
    • numbness
    • pain
    • altered sensation
  • autonomic
    • bowel, bladder disturbance
    • altered sweating, HR, BP
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4
Q

Conditions w/rapidly developing muscle weakness

A
  • NMJ disorders
    • myasthenia gravis
    • botulism
    • organophosphate poisoning
  • acute demyelination
    • Guillain Barre
  • electrolyte disturbance
  • toxic myopathies
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5
Q

Electrodiagnostic studies in peripheral nerve disorders

A
  • nerve conduction studies
    • demyelinating ==> slow NCS
    • vs. axonal neuropathy ==> decreased amplitude NCS
  • needle electromyography (EMG)
    • neuropathic (anterior horn/peripheral nerve) ==> loss of whole motor unit
    • vs. myopathic ==> drop out of biers w/in motor unit
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6
Q

Anterior Horn cell disorders (examples)

A

Amyotrophic lateral sclerosis*

Spinal muscular atrophy

Poliomyelitis and West Nile virus

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7
Q

Radiculopathies & plexopathies examples

A

Cervical (neck) and lumbosacral (back) nerve root compression (common)

Brachial and lumbosacral plexopathies

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8
Q

Peripheral neuropathies (mononeuropathy examples)

A

Carpal tunnel syndrome - entrapment of median nerve at wrist

Ulnar nerve palsy –entrapment at elbow

Peroneal palsy – entrapment at the head of the fibula

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9
Q

Peripheral neuropathies (polyneuropathy examples)

A

Hereditary – Charcot Marie Tooth disease*

Systemic disease – diabetes*, immune disorders etc

Vitamin deficiency – B12 deficiency, etc.

Exogenous toxins – alcohol, chemotherapy, etc.

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10
Q

NMJ disorders

A

Myasthenia gravis*

Botulism

Organophosphate poisoning

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11
Q

Myopathies examples

A

Muscular dystrophies – Duchenne/Becker*

Myotonic disorders

Inflammatory myopathies – polymyosits, dermatomyositis

Metabolic myopathies – glycogen storage, lipid myopathy

Endocrine/toxic myopathies

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12
Q

ALS signs/symptoms

A
  • progressive weakness & wasting
  • coexisting: spasticity & hyperreflexia
  • asymmetric limb weakness + fasciculations
  • foot drop or hand deformity possible
  • speech may be slurred/spastic
  • diaphragm weakness ==> decreased breathing capacity + impaired swalling ==> aspiration pneumo or respiratory insufficiency
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13
Q

ALS pathology

A
  • anterior horn cell disorder
  • brainstem + lower motor neuron degeneration ==> weakness/wasting
  • UMN degeneration ==> hyperreflexia/spasticity
    *
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14
Q

Sx management of difficulty speaking, swallowing, breathing

A
  • alternative communication devices
  • feeding tube
  • positive pressure ventilation
    • mask
    • tracheostomy
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15
Q

Charcot Marie Tooth Disease types

A
  • CMT Type 1:
    • slow nerve conduction velocities
    • pathological evidence of hypertrophic demyelinating neuropathy
  • CMT Type 2:
    • normal nerve conduction velocity
    • axonal degeneration
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16
Q

CMT genetic inheritance patterns

A
  • Autosomal dominant ==> CMT Type I & II
    • CMT1A = duplication of PMP22 (most common)
    • PMP22 = peripheral myelin protein gene
  • Autosomal recessive, X-linked ==> CMT type IV
17
Q

CMT presentation (signs/symptoms)

A
  • phenotype A:
    • child begins to walk normally
    • distal (hands/feet) weakness & sensory loss develops during first two decades of life
    • ==> walks w/brances
  • phenotype B:
    • impaired as infants ==> delayed walking
    • ==> wheelchair-bound
  • phenotype C:
    • adult-onset
18
Q

Most common type of diabetic neuropathy + presentation

A
  • distal sensory or sensorimotor polyneuropathy
  • initial numbness and burning dysesthesias in feet ==> legs & hands
  • weakness of foot dorsiflexor ==> foot drop gait
  • diminished grip strength/hand dexterity
19
Q

Sensation in diabetic neuropathy

A
  • loss of pin sensation in stocking glove distribution (often asymmetric)
  • “Large fiber pattern”
    • loss of position, vibration and light touch
    • decreased reflexes
  • “Small fiber injury”
    • prounounced loss of pain and temperature sensation
    • w/pain (dull aching; distal burning @ night)
    • NCVs may be near normal
  • autonomic dysfunction
20
Q

Other possible neuropothies w/diabetes mellitus

A
  • Lumbosacral plexopathy signs/symptoms
    • acute onset of asymmetrical proximal weakness and pain of legs
    • frequently @ onset of diabetes w/weight loss
  • mononeuropathies @ peripheral nerves
21
Q

Pathogenesis of diabetic neuropathies

A
  • varied
  • metabolic derangements ==> vascular changes ==> ischemic ==> neuropathies
22
Q

Myasthenia Gravis presentation (signs/symptoms)

A
  • fluctuating weakness & fatigue @ cranial, limb, or trunk musculature
  • ocular sx: ptosis, diplopia and blurred vision
  • weak facial muscles ==> slurred/nasal/hoarse speech
    • ==> trouble chewing/swallowing
  • weak respiratory muscles ==> SOB
23
Q

Pathogenesis/tx of MG

A
  • autoimmune disorder
  • Ab against post-jxnal AChR
  • Tx
    • oral cholinesterase inhibitors (symptomatic relief, temporary)
    • corticosteroids + immunosuppresion
    • plasma exchange
    • thymectomy
24
Q

Duchenne/Becker MD presentation (signs/symptoms)

A
  • Duchenne
    • clumsy, waddling gait
    • lumbar lordosis ==> protuberant abdomen
    • pseudohypertrophy of calves
    • toe waling
    • Gower’s maneuver
    • mental impairement common
  • Becker
    • later onset
    • more benign course
    • longer survival
25
Q

Duchenne/Becker MD genetic components

A
  • X-linked recessive
  • deletions, duplication, point mutations @ gene on X chromosome for dystrophin membrane protein
  • common mutations:
    • reading fraime shift ==> premature stop
26
Q

Labs associated w/DMD/BMD

A
  • highly elevated serum CK
  • biopsy/EMG show myopathic features
  • genetic testing
27
Q

Sx management in DMD/BMD

A
  • PT/OT
  • stretching ==> prevent contractures
  • respiratory therapists ==> BiPAP, assistive cough, chest percussion
    • ==> full-time ventilation