A bit more clarity on WS

June 16, 2019

Wolfram Syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare genetic disorder, causing the four conditions that make up the name, as well as various other possible disorders.
The Outlook...
Diabetes Mellitus can be controlled with insulin injections while vision problems usually, but not always, get worse. Often a patient will be registered blind within eight years of diagnosis.
About three quarters of patients get Diabetes Insipidus and two thirds become deaf in their teenage years. About two thirds experience renal problems in their twenties and a similar proportion get neurological complications in their thirties. However, there appears to be a subgroup of patients who run a milder course and don’t have these additional complications.

-Diabetes Mellitus is the name given when the body cannot convert glucose or sugar to energy, because the pancreas is not making enough of the insulin hormone. Symptoms include thirst, frequent passing of urine and weight loss. Glucose is passed out in the urine and blood tests show a high level of glucose in the blood. This usually needs treatment with insulin injections for life.

-Diabetes Insipidus is the name given when the body cannot concentrate the urine because the posterior pituitary gland in the head is not making enough of the vasopressin hormone. Symptoms again include thirst and frequent passing of urine. Urine tests show a very dilute urine. This can be treated by replacing the hormone with a nasal spray or tablets.

-Deafness usually means difficulty in hearing in a crowded room, and difficulty hearing high pitched sounds. Some patients are helped with a hearing aid.

-Optic Atrophy means death of the optic nerve. Symptoms often present as difficulty seeing in the classroom at school - or everything going grey. There is no treatment for this.


-Renal Problems include loss of control over bladder function, so patients may wet the bed or have accidents. Some patients are helped by passing a tube or catheter, passed several times a day.

-Neurological Problems may occur; these may include loss of balance, sudden jerks of the muscles, depression and breathing problems. Some of these problems may respond to drugs.
Will there be a cure for Wolfram Syndrome?

-Any cure is a long way off. The current research is to understand why mistakes in the Wolfram gene cause the syndrome. There are research groups in America, UK, Germany and Japan all investigating this problem.6 

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Wolfram Syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare genetic disorder, causing the fou...

A bit more clarity on WS

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