Chapter 27- PNS Flashcards by Anna Woods

What disorder should be thought of with heliotrope rash and malar rash

Dermatomyositis

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What disorder can appear very similar to SLE with a positive ANA and hallmark of anti-jo-1 antibody

Dermatomyositis

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What is the major characteristic of X-linked muscular dystrophy

Replacement of skeletal muscle by adipose tissue

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What is the typically first presentation of X-linked muscular dystrophy

Proximal muscle weakness at 1 year of age

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What disorder should be thought of with pseudohypertrophy, especially in calves

X-linked muscular dystrophy

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What disorder is characterized as autoantibodies against postsynaptic Ach receptor at NMJ

Myasthenia gravis

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What disorder is characterized by muscle weakness that worsens with use and improves with rest

Myasthenia gravis

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What NMJ disorder is associated with thymic issues

Myasthenia gravis

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What disorder is characterized by antibodies against presynaptic calcium channels at NMJ

Lambert-seton syndrome

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What paraneoplastic syndrome is lambert-Eaton syndrome most commonly due to

Small cell carcinoma

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How does lambert-Eaton syndrome resolve

Resection of the cancer

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What axonal neuropathy is associated with myelin ovoids

Wallerian degeneration

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What type of axonal neurodegeneration can produce the pseudotumor called traumatic neuroma

Wallerian degeneration

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What is the term for non-neoplasticism haphazard whirled proliferation of axonal processes and associated schwann cells that results in painful nodules

Traumatic neuroma

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What is a common cause of mononeuritis multiplex

Vasculitis

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What are some common causes of neuronopathies

Infections like HSV and toxins like platinum compounds

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What level is neuronopathy damage at

Level fo cell body

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What do peripheral axonopathies preferentially affect

Distal extremities

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What are the majority of Guillain-Barré syndrome preceded by

Flu-like illness

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What disorder has the clinical presentation of weakness beginning in distal limbs that rapidly advances to affect proximal muscle function (ascending paralysis)

Gullain-barre syndrome

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What is the major characteristic of chronic inflammatory demyelination for polyradiculoneuropathy

Symmetrical mixed sensorimotor polyneuropathy that persists for 2+ months

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What distinguishes chronic inflammatory demyelination from polyradiculoneuropathy from guillain-barre

Time course and response to steroids

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What inflammatory neuropathy is associated with onion bulbs

Chronic inflammatory demyelination polyradiculoneuropathy

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Where is the symmetric polyneuropathy with lepromatous leprosy most severe

In relatively cool distal extremities and in face because lower temperature favors mycobacterial growth

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Where does lepromatous leprosy predominate (like what cells)

Pain fibers

What dysfunction is prominent with diptheria

Prominent bulbar and respiratory muscle dysfunction

What is the most common cause of peripheral neuropathy

Diabetes

What dysfunctions of the ANS are common with diabetic neuropathy

Postural hypotension, incomplete emptying of bladder, sexual dysfunction

What is the primary event in uremic neuropathy

Axonal degeneration

What tumors often lead to brachial plexopathy

Neoplasms of lung

What neoplasms often lead to obturator palsy

Pelvic malignant neoplasms

Polyradiculopathy involving LE may develop when the cauda equina is involved by _______

Meningeal carcinomatosis

What is the most common paraneoplastic form of paraneoplastic neuropathies

Sensorimotor neuronopathy

What is sensorimotor neuronopathy most commonly associated with

Small cell lung cancer

What is Charcot-Marie-tooth disease clinical manifested as

Distal muscle atrophy, sensory loss and foot deformities

What are some morphological changes that occur with the demyelination groom forms of Charcot-Marie-tooth disease

Schwann cell hyperplasia and onion bulb formation

What is CMT1A caused by

Duplication of a region of chromosome 17 that includes PMP22 gene

How does CMT1A prevention

In 2nd decade of life as slowly progressive distal demyelinating motor and sensory neuropathy

What is CMT1B caused by

Mutations in myelin protein zero gene

What is CMTX linked to mutations in

GJB1 gene which encodes connexin 32

What type of injury occurs in CMT2

Axonal rather than demyelinating injury

What is CMT2A caused by

Mutation in MFN2 gene (which is required for normal mitochondrial fusion)

What is hereditary neuropathy with pressure palsy caused by

Deletion of gene encoding PMP22

What are tomaculi characteristic of

Hereditary neuropathy with pressure palsy

What gene is involved in familial amyloid polyneuropathies

Transthyretin gene

What is the mutated gene in familial amyloid polyneuropathies prone too

Deposit as amyloid fibrils

What nerve is compressed with saturday night palsy

Radial nerve

How do disorders that impair function of NMJ as a general statement present

With painless weakness

What disorders should be considered with ragged red fibers and parking lot inclusions

Myopathies associated with inborn errors of metabolism

What disease of skeletal muscle is associated with telangiectasias and dropout of capillary vessels

Dermatomyositis

What are the anti Mi2 antibodies involved in dermatomyositis directed against

Helicase implicated in nucleosome remodeling

What are the anti-jo1 antibodies involved in dermatomyositis directed against

Enzyme histidyl t-RNA synthetase

What other things is anti-jo1 antibodies associated with besides dermatomyositis

Interstitial lying disease, nonerosive arthritis, skin rash (mechanics hands)

What cases of dermatomyositis are anti-p155/p140 autoantibodies associated with

Paraneoplastic and juvenile cases

What muscles does dermatomyositis typically affect first

Proximal muscles

What is the name for the characteristic lilac colored discoloration of upper eyelids associated with dermatomyositis

Heliotrope rash

What is the name for the scaling erythematous eruption or dusky red patches over the knuckles, elbows and knees associated with dermatomyositis

Gotten papules

What cells are a prominent part of the inflammatory infiltrate in affected muscles of polymyositis

CD8+ T cells

What characteristics of dermatomyositis is absent in polymyositis

Perifascicular pattern of atrophy

What is the most common inflammatory myopathy in patients 65yo+

Inclusion body myositis

What disease presents as slowly progressive muscle weakness that tends to be more severe in quads and distal upper extremity muscles

Inclusion body myositis

What disease of skeletal muscle is associated with cN1A

Inclusion body myositis

What disease is rimmed vacuoles, tubulofilamentous inclusions and cytoplasmic inclusions associated with

Inclusion body myositis

What are the leading culprit for toxin myopathies

Statins

What gene is involved in central-core disease (autosomal dominant)

Ryanodine receptor 1 (RYR1)

What disease goes along with the pathological finding of cytoplasmic cores represented by demarcated central zones in which the normal arrangement of sarcomeres is disrupted and mitochondria are decreased in number

Central core disease

What disorder should be thought of with nemaline rods

Nemaline myopathy (NEM)

What fibers does nemaline myopathy primarily occur

Type 1 fibers

What is the mean age of death in duchenne MD

25-30 yrs

What chromosome are dystrophin mutations on

X chromosome

What is the first indication of muscle weakness with Muscular dystrophy

Clumsiness and inability to keep up with peers

Where does the weakness begin that is associated with muscular dystrophy

Pelvic girdle muscles and extends to shoulder girdle

What is myotonic dystrophy caused by

Expansion of CTG triplet repeats in 3' non-coding region of DMPK gene

What muscle dystrophy has characteristic pattern of muscle involvement that includes prominent weakness of facial muscles and muscles of shoulder girdle

Fascioscapulohumeral dystrophy

What is overexpressed with fascioscapulohumeral dystrophy

DUX4 on chromosome 4

What does carnitine palmitoyltransferase II deficiency cause

Episodic muscle damage with exercise and fasting

What does carnitine palmitoyltransferase 2 deficiency impair the transport of

Free fatty acids into mitochondria

What is the glycogen storage disease affecting skeletal muscle that results in episodic muscle damage with exercise

Myophosphorylase deficiency (McArdle disease)

What does acid Maltese deficiency result in

Impaired lysosomal conversion of glycogen to glucose, causing glycogen to accumulate within lysosomes

What clinical features are associated with the mitochondrial myopathy of Kearns-Sayre syndrome

Ophthalmologist, pigmentary degeneration of retina, complete heart block

What does mutations in KCNJ2 cause

Andersen-Twail syndrome

What is Andersen-Twail syndrome associated with (clinical)

Periodic paralysis, heart arrhythmias, and skeletal abnormalities

What are mutations in SCN4A associated with causing

Several auto disorders with presentation ranging from myotonia to period paralysis

What is the most common cause of hypokalemia paralysis

Missense mutations in CACNA1S

What do mutations in CLC1 cause

Myotonia congenita (decrease in myotonia dysotrophy)

What ion channel mutation can lead to malignant hyperthermia

RYR1

What type of channel is KCNJ2

K+ channel

What type of channel is SCN4A

Na+ channel

What does Merlin usually do

Normally restricts cell-surface expression of growth factor receptor

What is the term for dense eosinophilic areas containing spindle cells arranged into cellular intersecting fascicles

Antonio A

What should you think of when you see antoni A and Verocay bodies

Schwannomas

Where do most schwannomas occur

Cerebellopontine angle

What cranial nerve is most often affected by schwannomas

CN VIII

What is the term for benign, neoplasticism schwann cells admired with perineurial-like cells, fibroblasts, mast cells and CD34+ spindle cells

Neurofibromas

How do neurofibromas often present

As pedunculated nodules

What should you associate tactile-like bodies with

Diffuse neurofibromas

What type of neurofibromas are found in deep or superficial locations in associated with nerve roots or large nerves and is uniformly NF1-associated

Plexiform type

What type of neurofibromas should be considered with a shredded carrot appearance of collagen

Plexiform type

What is neurofibromin

Tumor suppressor that inhibits RAS activity but stimulating activity of GTPase

Are most malignant peripheral nerve sheath tumors high or low grade

High grade

What do most malignant peripheral nerve sheath tumors result from

Malignant transformation of plexiform neurofibromas

How do malignant peripheral nerve sheath tumors appear at low power

Appears marbilized due to variations in cellularity

What type of tumor is a triton tumor

Malignant peripheral nerve sheath tumor

What should you think of with Lisch nodules and cafe au lait spots

Type 1 neurofibromatoses

What is the most common tumor with type 1 neurofibromatoses

B/L 8th nerve schwannomas and multiple meningiomas

What chromosome is NF2 gene located on

Chromosome 22