Table 1 Symptoms of Wolfram syndrome
Typical symptoms | Details | Onset |
|---|---|---|
Diabetes insipidus | Partial central (51–87%) | 14 years (3 months–40 years) |
Diabetes mellitus | β-Cell loss; lower daily insulin requirement than T1D | 6 years (3 weeks–16 years) |
Optic atrophy | Bilateral. Diminished VA, color vision, visual fields; OD pallor, large OD, RNFL thinning, RGC loss, afferent pupillary defects, strabismus, nystagmus, cataracts (29.6–66.6%), pigmentary retinopathy (30%), diabetic retinopathy (7.6–34.6%) | 11 years (6 weeks–19 years), cataracts sometimes earlier; legal blindness within 8 years after the initial diagnosis |
Deafness | Sensorineural high frequency hearing loss, slowly progressing (62%) | 65% of patients, onset from infancy to adolescence |
Ataxia | Most common neurological symptom: problems of balance and coordination | 60% of patients, onset in early adulthood |
Urinary tract complications | Neurogenic bladder, bladder incontinence, urinary tract infections | 60–90% of patients |
Common symptoms | Details | |
General | Fatigue, hypersomnia | |
Neurological | Apnea (cause for mortality), dysphagia, headaches, impaired smell and taste | |
Psychiatric | Anxiety, panic attacks, depression, mood swings | |
Autonomic dysfunction | Impaired temperature regulation, dizziness when standing up, constipation, diarrhea, excessive sweating | |
Endocrine | Hypogonadism, hyponatremia |
