Wolfram syndrome, also known as DIDMOAD, is a very rare genetic disorder that children can be born with – roughly 1 in 500,000 children are affected by the condition.
The term DIDMOAD describes common features of the condition which may include diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Some of the features of Wolfram Syndrome, such as diabetes insipidus and diabetes mellitus, can be treated although complications, including kidney problems, are common.
History of Wolfram syndrome
Wolfram syndrome was first described in 1938 by Dr Don J Wolfram who observed the features in 4 siblings with the same condition.
Symptoms and features of Wolfram syndrome
Symptoms and features of Wolfram syndrome include:
- Diabetes insipidus: Caused by insufficient production of the hormone vasopressin leading to symptoms of regular thirst and a frequent need to urinate
- Diabetes mellitus: Caused by insufficient production of the hormone insuli, also leading to thirst and frequent need to urinate, in addition to significant weight loss, fatigue and high blood glucose levels
- Optic atrophy: Caused by death of the optic nerve leading to visual impairment and sometimes grey vision
- Deafness : Difficulty hearing high pitched sounds or within crowded rooms.
The symptoms diabetes mellitus and optic atrophy will usually both appear before the age of 15 years old.
Around 3 in 4 patients develop diabetes insipidus and 2 in 3 will develop deafness before reaching adulthood.
The following complications are common in Wolfram syndrome:
- Renal (kidney) problems: causing incontinence
- Neurological problems: causing ataxia (loss of balance), breathing difficulties, sudden muscle jerks and loss of taste and smell.
- Digestive disorders: including constipation and diarrhoea
- Chronic fatigue
Causes of Wolfram syndrome
Wolfram syndrome is caused by a mutation in the WFS1 gene.
The WSF1 gene controls the production of a protein called wolframin which is thought to be involved in the regulation of calcium in many parts of the body.
If you have a child with Wolfram syndrome, there is a 1 in 4 chance that each of your other children will develop Wolfram syndrome. It is possible to carry out genetic testing, whilst pregnant, to determine whether the developing baby will develop Wolfram’s syndrome.
Diagnosis of Wolfram syndrome
Wolfram syndrome will usually by diagnosed if the symptoms of diabetes mellitus and optic atrophy are present. Genetic testing can be used to confirm Wolfram syndrome.
How do you treat Wolfram syndrome?
Treatment for Wolfram syndrome involves treating each of the individual symptoms.
- Diabetes insipidus: Controlled by taking the hormone vasopressin either by nasal spray, tablets or by injection.
- Diabetes mellitus: Controlled by taking insulin and regularly monitoring blood glucose levels
- Optic atrophy: No treatment is available for optic atrophy
- Deafness: Can be treated with a hearing aid
- Muscle jerks: Can be controlled with anticonvulsant medication