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Table 1 Clinical manifestations of WS

From: Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives

Major clinical signs Other common clinical signs
Diabetes mellitusa [40]
 Average age of diagnosis 6 years
Urinary tract problems and renal dysfunction [13, 38]
  Neurogenic bladder
  Bladder incontinence
  Urinary tract infection
Average age of diagnosis 12–20 years
Optic atrophya [40]
 Average age of diagnosis 10–11 years
Psychiatric symptoms [52]
  Panic attacks
  Sleep abnormalities
  Mood swings
Diabetes insipidus [13, 38]
 Average age of diagnosis 14–15 years
Neurological manifestation/autonomic dysfunction [12, 38]
  Central apnea
  Decreased ability to taste and detect odors
  Orthostatic hypotension
  Hypothermia, hyperpyrexia
  Gastroparesis, constipation
Sensorineural hearing loss [13, 38]
 Average age of diagnosis 16 years
Endocrine disorders [12, 17]
 Deficient growth hormone secretion
 Deficient corticotropin secretion
 Delayed menarche in female
Neurological manifestation [38]: ataxia
 Average age of diagnosis 15 years
Atypical forms [6,7,8] Dominant disease with or without diabetes mellitus and recessive Wolfram like disease without diabetes mellitus
Severe gastrointestinal ulcers, bleeding and defective platelet aggregationb [12]
  1. aRequired for diagnosis
  2. bAssociated with WFS 2