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Neuromuscular Junction
Muscle biopsy was performed on this 40-year-old patient who presented with proximal lower extremity muscle weakness and normal CPK. …
CADASIL and the NOTCH3 Gene
The patient is a 45-year-old patient with a history of migraines and several transient ischemic attacks. Their family history was…
Nerve Fibers In Skin Biopsy
This 30-year old patient presented with tingling and burning sensation to their feet and ankles. Electrodiagnostic studies (NCS) showed no…
Peripheral Nerve Axon
This 60-year-old patient presented with complaints of a one-year history if intermittent pain and discomfort (burning and shooting) involving bilateral…
Intravascular Foreign Body Material
The patient is a 40-year-old who presented with proximal upper and lower extremity muscle weakness, and was found to have…
Granulomatous Myopathy and Neuropathy
This 40-year-old patient presented with a three year history of slowly progressive generalized muscle weakness. More recently their hands and…
Mitochondrial Abnormalities
The patient is a 50-year-old female who presents with a 5-year history of decreased ability to move her eyes and…
Tomacula
This 50-year-old patient presented with multiple mononeuroathies (mononeuritis multiplex). Laboratory testing showed negative MPO and PR3 autoantibodies. Nerve biopsy was…
Toxoplasmosis
This 50-year old immunocompromised patient died after presenting with rapid cognitive decline and signs of brainstem dysfunction (cranial nerve deficits).…
Myalgias After Eating Fish
This 35-year-old previously healthy patient developed generalized myalgias, muscle weakness, and dark colored urine the day after eating cooked fish…
Intranuclear Cytoplasmic Pseudoinclusion
This 55 year-old patient presented with generalized muscle weakness and normal CPK. Which of the following does the electron…
Unusual Metastatic Carcinoma
This 70-year-old male patient was found to have a single 3.5 cm ring-enhancing left frontal lobe lesion with surrounding edema…
Succinic Acid Dehydrogenase
This 60 year-old patient presented with distal asymmetric muscle weakness and normal CPK. Which of the following abnormalities is…
Thioflavin T sIBM
This 55-year old patient presented with a two-year history of proximal lower extremity weakness, difficulty grasping objects and atrophy of…
Suboptimal Snap Freezing
This 50-year-old patient presented with a two year history of bilateral upper extremity muscle weakness. They also complained of muscle…