neuromuscular disorders in children Flashcards

1
Q

describe lower motor neurons

A

starts from anterior horn cells in spinal cord
comprised of cell bodies and axons all the way to NMJ
carries on to the muscle fibres

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2
Q

when to suspect neuromuscular disorders

A
  • baby floppy from birth
  • slips from hands when you pick them up
  • lack of spontaneous limb movements
  • alert infants but less motor activity
  • delayed motor milestones
  • able to walk but frequent falls and clumsiness
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3
Q

what is the gower’s sign

A

indicates weakness in proximal hip muscles - pelvic girdle and lower limb weakness

lie on back up then get up as quickly as possible - process of getting up in photo

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4
Q

what does Gower’s sign indicate

A

Duchenne muscular dystrophy

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5
Q

what causes Duchenne muscular dystrophy and who does it occur in

A

1/ 3500 male infants

Xp21 - dystrophin gene (x linked)

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6
Q

features of Duchenne muscular dystrophy

A

delayed motor skills and may walk late

symmetrical proximal weakness - waddling gait, calf hypertrophy, Gower’s sign +ve

elevated creatinine kinase levels - >1000

cardiomyopathy

resp involvement in teens

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7
Q

evidence of muscle weakness in Duchenne muscular dystrophy

A
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8
Q

facial muscle weakness - myopathic facies

A
  • lack of muscle tone and power around the mouth
  • open mouth and tented lip appearance
  • drooped eyelids
    • can’t maintain head control
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9
Q

what is myotonia

A

inability for the muscle to relax after contraction

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10
Q

what is Charcot-Marie-Tooth disease

A
  • lack of muscle in feet, high arch, claw toes
  • hereditary motor-sensory neuropathy
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11
Q

anatomical approach to neuromuscular conditions

  • where is the site of the lesion
  • what is the lesion
A
  • muscle: muscular dystrophies, myopathies - congenital and inflammatory, myotonic syndromes
  • NMJ: myasthenic syndromes
  • nerve: hereditary or acquired neuropathies
  • anterior horn cell: spinal muscular atrophy
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12
Q

neuropathy vs myopathy

A

NEUROPATHY:

  • site of weakness: distal
  • sensory: may have concomitant sensory symptoms and signs
  • reflexes: lost early
  • fasciculation: may be present
  • contractures: not a feature
  • myocardial dysfunction: not a typical feature

MYOPATHY:

  • site of weakness: usually proximal
  • sensory: usually pure motor
  • reflexes: preserved till late
  • fasciculation: not typical
  • contractures: present
  • myocardial dysfunction: may can accompanying cardiac dysfunction w/ muscle dystrophies
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