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18 Cards in this Set
- Front
- Back
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What are neuromuscular disorders?
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- group of 40+ diseases that affect muscle and/or Peripheral nervous system
- generally hereditary diseases - results in weakness |
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Purpose of Muscular Dystrophy Association?
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- provide
1) service 2) quality of life support 3) funding for research |
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Problems in the anterior horn cell results in:
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Spinal muscular atrophy
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What are the 2 types of spinal muscular atrophy?
describe them |
Type 1
- present between 6-18 months - severe weakness - life span 2 years Type 2 - diagnosed later in life - wheelchair after adolescence - symmetrical weakness in muscle and respiratory - typical life span |
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Problems in the peripheral nerve results in
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peripheral neuropathy
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Common peripheral neuropathy?
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Charcot marie Tooth
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What causes peripheral neuropathy?
describe physical characteristics of patient |
- defective protein that forms myelin
- present at birth or later - flat footed, profresses to pes cavus (high arch) w/ hammertone - distal muscles more involved - typical life span |
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Problems in the neuromuscular junction results in:
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Myesthenia Gravis
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Describe Myesthenia Gravis
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- due to problem at NM junction
- problem w/ Acetylcholine at synapse - antibodies destroy ACTH receptors - weakness, droopy eye - typical life span unless a myesthenic crisis occurs |
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what are some treatments for myesthenia gravis?
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acetylcholinesterase inhibiting drugs (removes ACTH inhibitors), immunosuppresants, thymectomy
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what is the most common neuromuscular disorder?
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Duchenne Muscular Dystrophy
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Describe Duchenne Muscular Dystrophy
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- x linked recessive disorder, mutatioin in dystrophin gene
- does not produce enough dystrophin (protein) which is necessary for contraction and cognition - typically developing as babies - weakness between 2-6 years |
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at what age is weakness evident in patients with duchenne muscular dystrophy?
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2-6 years
they develop typically at birth |
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what should OT focus on for patients with Duchenne's muscular dystrophy?
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self help skills
energy conservation |
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at what age are patients w/ duchenne muscular dystrophy in a wheelchair?
what problem is common after the use of wheelchair? |
12-14
scoliosis is common, heart weakens |
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a positive Gowers sign is evident of what neuromuscular disease?
(positive Gowers sign = weak lower limb) |
duchenne muscular dystrophy
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life expectancy for patients with duchenne muscular dystrophy?
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early adulthood
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what are some treatments for Duchenne's?
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1) predisone- prolongs walking ability
side effect: irritable, + weight, osteoporosis 2) deflazacort- steroid similar to predisone, less side effects 3) myoblast transfer from healthy donor, painful, not much success |
