electrolytes, glucose, calcium/phosphorus, magnesium, lactate, pyruvate, liver and thyroid
function tests , blood gasses
, blood gasses
Serum CK, aldolase, myoglobin, HbA1c, oral glucose tolerance test
EMG, NCVs, FSH (DM2)
Ophthalmology (slit lamp)
Glycogen debrancher enzyme activity in WBC or muscle or liver biopsy specimens.
DNA testing for dystrophin Xp21.2 gene deletion (from WBC or muscle tissue (50 mg)), DMPK gene for DM1, DM2 gene for DM2 (PROMM), dysferlin gene (Miyoshi DMD), CLCN1 gene (Becker and Thomsen myotonia), SCN4A gene (paramyotonia congenita), EDMD (mutation emerin gene locus Xq28) or mutation lamin A/C gene locus 1q21.2-q21.3)
Muscle biopsy: one specimen for hematoxylin & eosin, one specimen for histochemistry (fresh sample), one specimen for EM (in glutaraldehyde) and one specimen for biochemistry and genetics (fresh sample)
helpful for differential diagnosis between acid maltase and debrancher enzyme deficiency, hypokalemic polymyopathy, mitochondrial myopathy, carnitine myopathy, FSHMD, LGMD CCM, nemaline myopathy: should include in addition to specific histochemical stainings, hematoxylin & eosin, modified Gomori trichrome staining (CCM, nemaline myopathy), ATPase stain, NADH-trazolium reductase and staining for dystrophin protein (immunostaining and immunoblot, or ELISA).
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