Term
| Name the Diseases of the Peripheral Nerves |
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Definition
Infectious polyneuropathies Guillain-Barre Syndrome Hereditary Neuropathies Acquired metabolic and Toxic neuropathies Traumatic Entrapment Toxic neuropathy |
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Term
| Name the 3 infectious polyneuropathies |
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Definition
Leprosy
Diphtheria
Varicella-Zoster |
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Term
| Leprosy is due to the invasion of _______ cells by _________ ______ |
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Definition
| Schwann cells by mycobacterium leprae |
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Term
| Lepromatous leprosy causes |
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Definition
| segmental demyleination with remyleination w/ loss of axons and endoceural fibrosis |
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Term
| What are the symptoms of Lepromatous leprosy |
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Definition
| Polyneuropathy w/ loss of pain sensation and traumatic ulcers |
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Term
| In tuberculoid leprosy nodular granulomas in the dermis ______ |
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Definition
| cutaneous nerves, w/ localized involvement |
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Term
| Diptheria causes damage by _____ which interferes w/ |
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Definition
| exotoxin that interfers w/ protein synthesis |
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Term
| What are the symptoms of diptheria |
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Definition
| loss of proprioception and vibratory sensation w/ weakness, paresthesia and demyleination |
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Term
| Varicella Zoster destroys sensory neurons in ganglia accompanied by |
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Definition
| mononuclear cell inflammation and painful vesicular skin eruptions |
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Term
| What's the morphology of Guillain-Barre syndrome |
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Definition
1. Perivenular or endoneurial infiltration by lymphocytes, monocytes
2. Demyelination
3. Axon damage |
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Term
| 2/3 of Guillian-Barre follow what? |
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Definition
| acute flu like illness, w/ possible T-cell mediated reaction against peripheral myelin |
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Term
| What's the Clinical features of Guillian barre? |
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Definition
1. Ascending paralysis (can involve aspiratory muscles)
2. Increases cerebral spinal fluid protein |
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Term
| Type I (HMSN) is known as |
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Definition
| Charcot-Marie-tooth disease hypertrophic form |
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Term
| Charcot-Marie-Tooth disease Type I is a |
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Definition
| demyleinating disease w/ repetitive demyelination and remyelination w/ "onion bulbs" |
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Term
| If you see onion blubs think |
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Definition
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Term
| HMSN I affects what kind of nerves |
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Definition
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Term
| HMSN I is a autosomal ______ due to duplication of chromosome ____ which include _______ ____ _____ |
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Definition
dominant
17
Peripheral mylein protein 22 |
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Term
| HMSN II involves which chromosome |
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Definition
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Term
| HMSN II is a non-hypertrophic w/ loss of |
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Definition
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Term
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Definition
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Term
| HMSN III is slowly progressive and involves which muscles |
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Definition
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Term
| HMSN III is a autosomal ________, w/ mutations in _____ or ___ which are different than ______ |
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Definition
dominant
PMP22 or MPZ
HMSNI |
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Term
| Familial amyloid polyneuropathy is autosomal _________. it's due to a mutatoin where? |
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Definition
dominant
transthyretin gene mutation on chromosome 18 |
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Term
| Name the acquired metabolic & toxic neuropathies |
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Definition
1. Diabetes mellitus
2. Chronic renal failure
3. Vitamine deficencies
4. Maligancies |
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Term
| In diabetes mellitus axonal damage is due to |
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Definition
| effects of glycosylated proteins or ischemia |
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Term
| Is there thickening and hyalinization of walls of the endoneural arterioles in diabetes mellitus? |
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Definition
|
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Term
| What vitamin deficiencies cause axonal neuropathies |
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Definition
| Vitamin B6, B12, E and thiamine |
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Term
| Name a maligancies that infiltration or compresses and causes a neuropathy |
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Definition
|
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Term
| this maligencies causes neuropathy and is seen in about 2% of lung cancer |
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Definition
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Term
| Entrapment neuropathies are due to compression of peripheral nerves where? |
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Definition
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Term
| What's the most common entrapament neuropathy? |
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Definition
|
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Term
| Toxic neuropathies are due to |
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Definition
| heavy metals, organic chemicals and environmental chemicals |
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Term
| Denervation atropy is seen where? |
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Definition
| anterior horn or peripheral axon disease |
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Term
| Spinal muscular atropy is seen in what age group? |
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Definition
| it's known as infantile motor neuron disease |
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Term
| spinal muscular atropy is inherited how? |
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Definition
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Term
| Which gene is deleted in Denervation atrophy? How about in the most severe cases? |
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Definition
survival motor neuron gene
deletion of neuronal apoptosis inhibitory protein gene on chromosome 5 |
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Term
| What is the most common spinal muscular atrophy disease? |
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Definition
| SMN type 1 "Werdnig-Hoffmann disease" |
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Term
| Name the muscular dystrophies |
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Definition
X-linked: Duchene and Becker
Autosomal limb-girdle muscular dystrophies
Myotonic dystrophy |
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Term
| Describe the morphology of X-linked muscular dystrophies |
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Definition
1. Increased number of central nuclei
2. Degeneration & phagocytosis of muscle fibers
3. Fiber regeneration, fibrosis
4. Increased connective tissue |
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Term
| Mutations on chormosome 21 dystophin gene cause |
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Definition
| X-linked muscular dystrophies |
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Term
| what are the clinical features of DMD |
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Definition
1. Mostly Males
2. Manifest by age 5 and wheelchair bound by age 12
3. Begins in pelvic muscles
4. Pseudohypertrophy
5. Fatal by mid-20s due to respiratory failure, pneumonia and cardiac failure |
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Term
| What is pseudohypertophy? |
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Definition
| Infant hercules caused by Duchenne muscular dystrophy |
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Term
| Describe autosomal limb-girdle muscular dystropies |
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Definition
domiantly inherited and can involve myotilin, Lamin A/C or Caveolin w/ child or adolescents
Recessive: calpain 3, dysferin or telethonin |
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Term
| Myotonic dystrophy is due to expanision of _____ repeats |
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Definition
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Term
| If you have expansion of CTG repeates, presentatoin in late childhood, abnormal gait you have |
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Definition
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Term
| myotonic dystrophy affects which muscles? |
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Definition
| those of the hands and face |
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Term
| Myotonic dystrophy due to mitochondrial myopathies involve what? How does it present? |
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Definition
oxidative phosphorylation
young adults w/ proximal muscle weakness and external opthalmophelgia |
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Term
| name the 3 toxic and metabolic myopathies |
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Definition
thyrotoxic
Ethanol and cocaine induced rhabdomyolysis
Corticosteriod induced type 2 fiber atrophy |
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Term
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Definition
Proximal muscle weakness
Periodic paralysis |
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Term
| What does ethanol and cocaine induced rhabdomyolysis lead to? |
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Definition
| myoglobinuric renal failure |
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Term
| How do you get Corticosteriod induced type 2 fiber atrophy? |
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Definition
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Term
| Name the diseases of the NMJ |
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Definition
| Myasthenia gravis and Lambert-Easton syndrome |
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Term
| Myasthenia gravis is due to |
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Definition
| antibodies against Acetylcholine receptor |
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Term
| How do patients present if they have myathenia gravis |
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Definition
Diplopia or ptosis due to involvement of extra ocular muscles
Symptoms improve w/ anticholinesterases
Respiratory failure |
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Term
| How do you treat myathenia gravis |
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Definition
| Plasma exchange, thymectomy, immunosuppression |
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Term
| In Lambert Eaton, antibodies are against |
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Definition
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Term
| How does Lambert-Easton syndrome begin? |
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Definition
| Proximal muscle weakness and autonomic dysfunction |
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