Diagnosis of Exclusion

We discussed an rare disorder, which is a diagnosis of exclusion, of idiopathic elevated CK (hyper-CK-emia).  A few take-home points regarding this disorder includes:
  -The majority of these patients with hyper-CK-emia will have persistent elevations
  -Very few will have a definitive diagnosis after years of follow up
  -Diagnostic approach includes laboratory testing, EMG, and muscle biopsy

Diagnoses that should be excluded in patients with an elevated CK include endocrinopathies, connective tissue disorders, viral illnesses, pregnancy, celiac disease, drugs, toxins, exercise, trauma, seizures, electrolyte abnormalities, and muscular dystrophy.

Adult Onset Muscular Dystrophy
  This can present as a multi-system problem.  Myotonia, muscle pain, limb/hand/head/neck weakness, GI complaints due to spasms or weakness along the whole GI tract, and cardiac conduction abnormalities are the more common findings.

An example of "Hatchet Facies" due to temporalis muscle atrophy.

An example of "Hatchet Facies" due to temporalis muscle atrophy.