Acanthocytosis physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Physical Examination
- Hematologic
- 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
- GI
- Abdominal distention
- Failure to thrive, with short stature and decreased weight
- Hepatomegaly
- Splenomegaly
- Ascites
- 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
- Skeletomuscular
- Muscular atrophy
- Muscle contractures
- Kyphoscoliosis
- Pes cavus
- Pes equinovarus