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Definition
One of the most common hereditary neuropathies, most frequently autosomal dominant but may also be autosomal recessive or X-linked |
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Definition
Comprised a heterogenous group of inherited peripheral nerve diseases all of which are demylinating forms or axonal degeneration |
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Term
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Definition
Which form of CMT is a demylinating form? |
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Definition
Which form of CMt is axonal degeneration? |
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Definition
Which CMT is also called Dejerine-Sottas disease? |
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Term
CMT 4. CMT 3 is autosomal recessive or autosomal dominant. 1 & 2 are both autosomal dominant |
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Definition
Which CMT is autosomal recessive? |
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Term
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Definition
Which is the most common form of CMT? |
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Definition
Which is the 2nd most common form CMT? |
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Term
muscle weakness beginning with the feet and legs and further progressing to hands and forarms |
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Definition
What are the common symptoms of Charcot-Marie-Tooth? |
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Term
1)Abnormal high step gait-or waddling 2)Freq falling or tripping 3)distal weakness 4)Pes cavus 5)sensory loss 6)high arches 7)flat feet, inverted heal 8)hammertoes |
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Definition
Signs and symptoms of CMT |
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Term
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Definition
Which form of CMT has a later stage of onset and produces less involvemetn of intrinsic muscles of the hands and lacks palpably enlarged nerves and "onion bulb" formations |
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Term
1) Legs->inverted champagne bottle 2) hands->weakness and muscle resulting in difficulty with carrying out fine motor skills 3) Loss of ambulation 4) Respiratory muscle weakness |
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Definition
What are 4 potential complications of CMT? |
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Term
1)family history and neuro exam 2)Palpable hypertrophic nerves-CMT1 3)genetic testing 4)nerve biopsy->onion bulb-CMT1 5)NCV and EMG |
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Definition
How does one diagnose CMT? |
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Term
Has loss of a copy of PMP 22 or point mutations. Type 1A has duplication |
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Definition
How do you differentiate btn CMT and Hereditary Neuroapthy with Liability to Pressure Palsies (HNPP) |
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Term
MS-goes away and comes back, hardening of the nervous system tissue and vision problems |
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Definition
What is a differential btn MS and CMT? |
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Term
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Definition
An unexplained paralysis or weakness of muscles on one side of face which are innervated by the facial nerve |
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true Bell's Palsy is idiopathic. Some evidence that Herpes simplex 1 infecion in the geniculate ganglion |
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Definition
What is the etiology of Bell's Palsy? |
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Term
1)drooping eyelid on affected side 2)involuntary muscle twitches 3)difficulty closing one eye 4)dry eyes 5)drooling 6)retroauricular pain 7)hyperacusion 8)possible impairment of ant 2/3 of tongue or lacrimation |
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Definition
signs and symptoms of Bell's Palsy |
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Term
1)Blood tests and CSF to determine if bacteria or virus is causing paralysis 2) Electrophysiological tests 3)MRI to view condition of facial nerve |
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Definition
How do you diagnose Bell's Palsy? |
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Term
1)Herpes Zoster 2)Lyme's Disease 3)meningitis 4)Epstein Barr 5)Presence of tumors 6)stroke or ruptured aneurysm |
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Definition
What are 6 things that must be ruled out before one can diagnose Bell's Palsy? |
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Term
1)Many patients recover on own w/out TX 2)TX- Antivirals:clovir family 3)TX- Steroids-reduces inflammation which relieves facial nerve compression-Prednisone |
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Definition
How is Bell's Palsy treated? |
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Term
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Definition
In rare cases of Bell's Palsy, this happens: facial nerve fibers reach the wrong target mixing up tears and saliva |
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