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Currently filtering by tag: phosphomonoesterases

C9orf72 Gene

C9orf72 gene, neuronotes, neropathology
The patient is a middle-aged Caucasian male who presents with chief complaint of progressive muscle weakness and muscle cramps of insidious onset. He also reported muscle mass loss and muscle twitching. No muscle pain, no skin rash, or myotoxic medications are reported.  Myositis panel is negative.  CPK levels over the last few months have trended slightly upward, and the most recent CPK is ~800.  EMG/NCS shows denervation-type changes.  No family history of  neuromuscular disorder is reported.  A muscle biopsy of the thigh was pursued to aid in diagnostic work-up, and confirms denervation-type changes that are active and chronic.  A clinical...

Neuromuscular Junctions

Neuromuscular Junctions
Neuromuscular junctions in normal skeletal muscle.  Esterase preparation (A) darkly highlights neuromuscular junctions (NMJs) along a small intramuscular nerve twig.  Original magnification:  A. Nonspecific Esterase Preparation, 100x.   A relatively young patient presented with hypotonia. Course features were noted on physical exam; however, multiple studies revealed no etiology for the patient’s clinical picture. A muscle biopsy was pursued to evaluate for myopathy.  Using Figure 1, what structures (black arrows) are highlighted by the esterase stain shown below?   Answer: Neuromuscular Junctions  Nonspecific esterase preparation is one of the principal enzymatic histochemical stains used to evaluate neurogenic pathology in skeletal muscle...

Alkaline Phosphatase in Muscle Biopsies

Alkaline Phosphatase in Muscle Biopsies
An elderly female in her mid-70’s presents with insidiously progressive severe proximal muscle weakness over the last two to three months to the point that her symptoms of weakness have interfered with her activities of daily living (ADLs) and are also causing her to have limited ambulation. The patient had been on a statin medication for a number of years without issue, and the dosage had recently been increased.  Hospital admission showed markedly elevated CPK levels that peaked at CPK ~ 7500 and had moderate downward trend with supportive care.  Steroid medication was held until after muscle biopsy of the...