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Neuromuscular junction in 60-year-old patient
Clinical History: Muscle biopsy was performed on this 60-year-old patient to evaluate for subjective complaints of muscle weakness. Several small…
sIBM FFPE Thicks
Clinical History: This 55-year-old patient presented with complaints of a several year history of slowly progressive asymmetric upper and lower…
Lipid storage myopathy in 50-year-old patient
Clinical History: The 50-year-old patient was admitted for shortness of breath and acute muscle weakness following a viral illness. Laboratory…
Cap myopathy
Clinical History: This 25-year-old patient presented with complaints of lower extremity muscle weakness. Their past medical history was significant for…
Lymphocytes
Clinical History: Patient presented with progressive proximal weakness since August and severe x2 weeks. Past medical history: hyperthyroidism, hyperlipidemia, herpes…
Pompe disease in teenage male
Clinical History: Teenage male with normal developmental milestones but difficulty playing sports or running. What is the diagnosis? Here are…
MYCN-amplified spinal ependymoma
Clinical History: This 40-year-old patient has increasing back pain and lower extremity paraparesis. MRI of the cervical and lumbar spine…
Calciphylaxis
Clinical History: This 50-year old patient presented complaints of upper and lower extremity proximal and distal muscle weakness. They also…
Split muscle fiber
Clinical History This 45-year-old patient underwent muscle biopsy to evaluate for muscle weakness. The biopsy showed denervation type changes (neurogenic…
Partially necrotic and regenerating myofibers
Clinical History The 21-year-old patient presented with skin rash and proximal upper and lower extremity weakness of several weeks duration.…
Teenager with difficulty playing sports
Clinical History Teenage male with normal developmental milestones but difficulty playing sports or running. What’s the diagnosis? Here are the…
Teenager with abnormal gait
Clinical History The patient is a 16 year old male with a longstanding gait abnormality. Genetic testing reveals a pathological…
Porphyria
Clinical History The patient is a 44-year-old woman with progressive, episodic weakness. Her past medical history includes erythropoietic porphyria and…
Perimysial elastin fibrils
Clinical History This 45-year old patient presented with complaints of muscle weakness. Prior genetic testing detected a heterozygous variant of…
Paraneoplastic dermatomyopathy
Clinical History This 65-year-old patient presented with bilateral symmetrical proximal upper and lower extremity muscle weakness, dysphagia and skin rash.…