file:///C:/Users/ssm05/Downloads/2024%20TBL1%20Vignettes.pdf
i am trying to prepare for tomorrow's open note quiz. we are allowed to fill in the attached worksheet with vignettes. also, we need to prepare for some of the previous lectures to prepare for quiz. given the following learning objectives from the 6 relevant lectures, finish the worksheet with diagnosis and reasoning, emphasizing which of the learning objectives it each may be related to and what detailed information may be needed for the quiz.

 Muscle Disease
1. Understand the genetics and pathophysiology of the dystrophinopathies and Myotonic
dystrophy
2. Describe the unique clinical presentations of the dystrophinopathies, Myotonic
dystrophy, and FSH dystrophy
3. Describe the non-motor manifestations of muscular dystrophies
4. Understand the diagnostic studies that can support and confirm the diagnosis of
muscular dystrophies
5. Describe the unique clinical presentations of polymyositis, dermatomyositis, and
inclusion body myositis (IBM)
6. Contrast the pathophysiology of polymyositis, dermatomyositis, and IBM
7. Describe the diagnostic approach to polymyositis, dermatomyositis and IBM 4. Know the
unique side effects of chronic steroid use
Neuromuscular Junction Diseases
1. Describe the physiology of the neuromuscular junction including the process involved in
acetylcholine release and inactivation
2. Describe the difference between neuromuscular junction disorders in terms of
presynaptic and postsynaptic conditions and how these involve nicotinic or muscarinic
receptors (or both)
3. Understand the mechanism of fatiguing weakness in myasthenia gravis
4. Compare and contrast myasthenia gravis and Lambert-Eaton syndrome. Which tumors
are associated with each? What exam findings distinguish these conditions? What lab
findings are distinctive?
5. Describe the unique clinical presentation and exam findings of botulism. Why is the pupil
involved in this condition but not myasthenia gravis?
6. List the unique clinical features of organophosphate poisoning. Review the anatomy of
the parasympathetic system and correlate this with the clinical presentation
Peripheral Neuropathy and EMG
1. Understand the different classifications of peripheral neuropathy (small fiber vs. large
fiber, symmetrical vs. asymmetrical peripheral neuropathy, etc.)
2. Describe the unique pathophysiology of specific neuropathies such as diabetes,
hypothyroidism, Guillain-Barre syndrome, and vincristine.
3. Recognize the unique clinical presentation of specific neuropathies (diabetes vs. B6
toxicity vs. vasculitis vs. Guillain-Barre syndrome)
4. Compare and contrast the peripheral neuropathies that can have an acute presentation
5. Describe the unique presentation and exam findings of the common mononeuropathies
6. Understand how the CMAP and SNAP waveforms are generated
7. Understand why CMAPs are reduced and SNAPs are preserved in anterior horn cell
disease and radiculopathy
8. Describe the EMG/NCS findings in peripheral neuropathy with regards to CMAP and
SNAP changes.
9. Recognize the clinical significance of fibrillations, fasciculations, conduction block, and
motor unit potential changes.
10. Understand why MUPs are larger in peripheral neuropathy, smaller in myopathy
Multiple Sclerosis and Neuromyelitis Optica
1. Understand the genetic, environmental, and immunological factors involved in multiple
sclerosis
2. Recognize the clinical presentation of MS, which areas of the CNS are most likely
involved, and the typical exam findings
3. Describe how the diagnosis of MS is confirmed
4. Understand the acute and preventive treatments involved in MS including the safety
issues and efficacy of these medications
5. Distinguish MS from NMO in terms of clinical presentation, diagnostic studies, and
treatment

Neuropathology: Skeletal Muscle and Peripheral Nerve
● Recall the two primary types of skeletal muscle pathology (i.e., neurogenic injury and myopathic injury)
● Contrast the histologic patterns of muscle injury between neurogenic atrophy and myopathic injury
● Recall the disease processes that may result in neurogenic atrophy
● Be familiar with the specific genetic aberrations and the corresponding pathologic manifestations for the major
muscular dystrophies
● Recall the clinical manifestations, pathologic findings, and genetic basis of myotonic dystrophy
● Contrast the specific features of the glycogen accumulation in the myopathic forms of glycogen storage
disorders
● Understand the inheritance pattern, clinical manifestations, and specific pathologic finding of mitochondrial
myopathy
● Contrast the site of muscle fiber inflammation and injury, as well as recognize unique distinguishing features of
polymyositis, dermatomyositis, and inclusion body myositis
● Contrast the mechanism of injury and pathologic findings in axonal neuropathies and demyelinating
neuropathies
● Contrast the unique clinical and pathologic presentations of AIDP and CIDP
● Understand how the genetic aberration and resultant pathologic injuries to peripheral nerves in Charcot-Marie-
Tooth disease contributes to the unique clinical presentation of the disease
● Recognize the pathologic findings that are typical of diabetic neuropathy
● Correlate the concept of Wallerian axonal degeneration to the pathologic findings in traumatic nerve injurie

Neuropathology: CSF and Increased Intracranial Pressure
● Recall the components of the blood brain barrier, including which component is most important for protecting
the brain from exposure to toxins, organisms, etcetera
● Recall the flow of CSF, from the site of production in the choroid plexus to the point of reabsorption into the
venous blood supply – Understanding this directional flow is critical for understanding how varying patterns of
ventricular enlargement result from blockages at different sites
● Contrast the clinical and laboratory findings necessary to distinguish between physiologic rhinorrhea and
rhinorrhea/otorrhea due to a cerebrospinal fluid leak
● Understand the pathologic basis of and the patterns of ventricular enlargement in communicating vs. non-
communicating, obstructive vs. non-obstructive hydrocephalus
● Recall in which types of hydrocephalus would a lumbar puncture be contraindicated
● Contrast the pathophysiologic basis of and typical neuroanatomic location of the sites of the different types of
edema (cytotoxic, vasogenic, and interstitial).
● Be familiar with the simple formula for calculating cerebral perfusion pressure, and how changing the
components of the formula may result in brain injury, as well as explains the treatment rationale for patients
with increased intracranial pressure
● Recognize the Cushing’s reflex, and how the reflex explains the physiologic manifestations of patients with
increasing intracranial pressure
● Compare the patterns of herniation as well as recognize the associated clinical and pathologic findings in
subfalcine, transtentorial, and transforaminal herniations