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36-year-old man with longstanding weakness
Clinical History: Chief complaint: Weakness first presenting in teens. Family history: Brother with myopathy. Medication: Denies statins. Physical exam: Moderate…
71-year-old man with proximal weakness
Clinical History: Past medical history: advanced esophageal adenocarcinoma status post radiation and chemo/immunotherapy with immune mediated hepatitis, and moderate alcohol…
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 intramuscular…
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 extremity…
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 studies…
Cap myopathy
Clinical History:This 25-year-old patient presented with complaints of lower extremity muscle weakness. Their past medical history was significant for chronic…
Lymphocytes
Clinical History:Patient presented with progressive proximal weakness since August and severe x2 weeks.Past medical history: hyperthyroidism, hyperlipidemia, herpes simplex, hypertension.Medications:…
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 the diagnostic images…
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 with…
Calciphylaxis
Clinical History:This 50-year old patient presented complaints of upper and lower extremity proximal and distal muscle weakness. They also related…
Split muscle fiber
Clinical HistoryThis 45-year-old patient underwent muscle biopsy to evaluate for muscle weakness. The biopsy showed denervation type changes (neurogenic atrophy).…
Partially necrotic and regenerating myofibers
Clinical HistoryThe 21-year-old patient presented with skin rash and proximal upper and lower extremity weakness of several weeks duration. Laboratory…
Teenager with difficulty playing sports
Clinical HistoryTeenage male with normal developmental milestones but difficulty playing sports or running.What’s the diagnosis?Here are the diagnostic images for…
Teenager with abnormal gait
Clinical HistoryThe patient is a 16 year old male with a longstanding gait abnormality. Genetic testing reveals a pathological mutation.What…
Porphyria
Clinical HistoryThe patient is a 44-year-old woman with progressive, episodic weakness. Her past medical history includes erythropoietic porphyria and prior…