Living with Wolfram syndrome
A genetic condition with diabetes, gradual vision loss, and often hearing and urinary problems, starting in childhood.
Understanding Wolfram syndrome
Diabetes is usually the first sign, often diagnosed around age 6, and nearly everyone with it needs insulin. Optic atrophy (damage to the nerve from eye to brain) often follows around age 11, starting with loss of color and side vision. Many also have diabetes insipidus (a lot of urine), hearing loss, urinary tract problems, low testosterone in males, or nervous system and mood conditions.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Diabetes mellitus
- Optic atrophy
- Diabetes insipidus and extreme thirst
- Hearing loss from the inner ear
- Urinary tract problems
- Poor coordination and slurred speech
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Snow Foundation For Wolfram Syndrome Research may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Snow Foundation For Wolfram Syndrome Research
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Snow Foundation For Wolfram Syndrome Research
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says a child inherits a changed copy of a gene from each parent (autosomal recessive). It doesn't name a gene here.
Also known as: diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome; diabetes mellitus and insipidus with optic atrophy and deafness; didmoad; didmoad (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome
Patient organizations
- Snow Foundation For Wolfram Syndrome ResearchWolfram syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Wolfram syndrome.
Explore research for Wolfram syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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