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My Diagnoses

 

  • Ataxia (incoordination and unsteadiness due to the brain's failure to regulate the body's posture and regulate the strength and direction of limb movements.)
  • Muscular Hypotonia in the upper body (decreased tone of skeletal muscles. In a word, floppiness.)
  • Unable to stand and walk
  • Equinovalgus (a foot abnormality in which the heel is elevated and turned outward from the midline of the body)
  • Mental retardation (limitations in mental functioning)
  • Speech development disorder (good speech comprehension, yet no speech production)
  • Labyrinthine deafness in both ears
  • Recruitment (hyper-sensitive ears; unable to tolerate ordinary levels of noise andespecially shrill sounds like children’s voices)
  • Pinealoma of unclear origin (a germ cell tumour in the area of the pineal gland/epiphysis of the brain is suspected)
  • Symptomatic epilepsy (due to brain damage); fierce fever convulsions in the past; no seizures anymore but short absences
  • Hypoplastic right kidney (underdeveloped kidney)
  • Vitamin D deficiency
  • Osteopenia (mild thinning of the bone mass)
  • Ptosis, right eye (droopy eyelid)
  • Amblyopia (lazy eye) of the right eye is suspected
  • Hyperopia and astigmatism in both eyes (farsightedness and blurred vision)

 

 

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English Version by Christina Heger in cooperation with Tom Muirhead, Paul Strikwerda and Floriane Ballige