Acanthocytosis physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Physical Examination

  • Ocular
    • Progressive retinitis pigmentosa with loss of night vision, visual acuity, and color vision
    • Nystagmus after age 10 years
    • Ophthalmoplegia with strabismus
    • Progressive exotropia
    • Cataracts
  • Neurologic
    • Loss of deep tendon reflexes
    • Decreased sensation to touch, pain, temperature, and position
    • Stocking-glove distribution of hypoesthesia
    • Decreased muscle strength
    • Intention tremors and progressive ataxia with clumsiness and gait disturbances, dysarthria, dysdiadochokinesis, and dysmetria
    • Chorea
    • Mental retardation, cognitive decline, neuropsychological abnormalities
    • Altered mental status
    • Fatigue
    • Cold intolerance
    • Skin palmar erythema
    • Spider angiomas
    • Abdominal wall collateral veins
    • Edema
    • Recurrent skin infections

References


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