An overview of Wolfram syndrome

 


Wolfram syndrome is very rare and it comes under a group of genetic diseases. Wolfram syndrome is a progressive and neurodegenerative disorder which highly damages your brain and other tissues in the body. Usually, a sequence of symptoms will appear during the period of childhood to adulthood.Before the age of 15, first symptoms of this syndrome are diabetes and vision changes. And followed by impaired brain function which leads to early death.


Types


Healthcare professionals have to identify two genes which are involved in Wolfram syndrome disease. Typically genes are sequences of DNA which carries genetic information.


People who have Wolfram syndrome must have changes in their genes. Healthcare professionals classified the Wolfram syndrome which is usually based on the affected genes:


  • Wolfram syndrome type 1 -   mutation of the WFS1 gene.

  • Wolfram syndrome type 2 - mutation of the WFS2 (CISD2) gene.


How is Wolfram syndrome inherited?


Wolfram syndrome will be passed on by their parents. Usually it involves both biological parents having the same mutated genes. But in some rare cases, people can inherit Wolfram syndrome type 1 even though only one parent has the mutated gene.


How common is Wolfram syndrome?


Wolfram syndrome is very rare and healthcare professionals do not know exactly how oftenly it affects the people. Study shows that Wolfram syndrome affects 1 in 770,000 people in the UK. And studies from other countries suggested that it is more common in people who are marrying their close relatives and having children with them.


Type 2 of Wolfram syndrome is very very rare. Healthcare physicians have recorded cases in only a few families throughout the world.


Most important features of Wolfram syndrome type 1


Signs and symptoms of Wolfram syndrome type 1 will vary from one person to another person. But in most cases, usually this diesease can be predictable at the stage of childhood and adulthood period. This is the most frequent sequence and usual age which symptoms will appear:



Diabetes mellitus (age 6): 


Diabetes mellitus is a health problem with your body’s ability which can absorb the sugar called glucose from the food you eat daily. Generally, pancreas in your body makes insulin which usually helps your cells absorbs sugars from your bloodstream. If your pancreas don’t make enough insulin or if your cells don’t respond to insulin, your blood sugar will rise too high. Wolfram syndrome which is related to diabetes is more similar to type1 diabetes but it is not an autoimmune disease. Usually, the symptoms of diabetes like often urination, more of thirsty sensation, blurred vision and sudden weight loss.


Optic atrophy (age 11):  Generally, optic nerves carries signal from your eyes to brain. So if the degeneration happens to your optic nerve then it is called optic atrophy. Symptoms like blurred vision, dulled vision or peripheral side vision.


Sensorineural hearing loss (age 13): Sensorineural hearing loss will happen because of damages in your inner ear. This type of hearing loss will gets worse as you age getting older which highly lead to deafness.


Diabetes insipidus (age 14): Diabetes insipidus disease which is not usually related to diabete mellitus. It means it has issues with the production of an antidiuretic hormone which usually controls the amount of water in your pee. People who got diabetes insipidus will have large amounts of watery urine. This type of excess urination will cause dehydration, electrolyte disturbance in your body, weakness, more often dry mouth and severe constipation problems..



The outdated name of Wolfram syndrome is DIDMOAD. This abbreviation accompanies the basic symptoms:


  • Diabetes insipidus (DI).

  • Diabetes mellitus (DM).

  • Optic atrophy (OA).

  • Deafness (D).


Symptoms of Wolfram syndrome type 1


Some common symptoms of Type 1 are:


  • Hormone disorders: health issues like Hypopituitarism, low sex drive called hypogonadism, delaying growth and it delay the start of menstrual periods.

  • Neurological symptoms: having problems with movement and coordination called ataxia, dementia, severe headaches, central sleep apnea, epilepsy and it reduces the sense of taste and smell.

  • Psychiatric conditions: Having mental issues like Depression, anxiety, panic attacks, often having mood swings and sudden aggressive behaviour.

  • Urinary tract abnormalities: Urinary tract infections (UTI), urinary incontinence and half emptying of your bladder.


Symptoms of Wolfram syndrome type 2


Generally, the symptoms of Type 2 is similar to type 1 but it can also include:


  • Abnormal bleeding.

  • Gastrointestinal ulcers.


People who are affected with Wolfram syndrome type 2 usually don’t have any diabetes insipidus or psychiatric health conditions.


Causes


Wolfram syndrome usually occurs when both the biological parents pass on mutated genes like WFS1 or WFS2 (CISD2) to their children and grandchildren.


Diagnosis


Diagnosing the Wolfram syndrome disorder can be very challenging. Healthcare professionals will help to diagnose the individual health conditions but it does not make any connections between them. But diagnosis will happen after the multiple symptoms develop in the body.


If your physicians suspect that you have Wolfram syndrome, then they will suggest genetic testing. This test helps to detect changes in the WFS1 and WFS2 (CISD2) genes and it helps you to confirm the diagnosis.


Treatment


Till now, there are no ideal treatments to stop or slow down the progress of Wolfram syndrome. Typically, treatment focuses on managing associated symptoms. For example, healthcare professionals treat diabetes mellitus with the help of insulin to manage the blood sugar levels. And with the help of hearing aids will help people with hearing loss.


Other treatments


Researchers suggest some therapies that might improve the result for people with Wolfram syndrome. Some of the leading strategies are:


  • Medications to reduce the cell damage which is caused by disruption of proteins.

  • Gene therapy which helps to repair or replace mutated (change of ) WFS1 and WFS2 (CISD2) genes in the body.

  • Regenerative therapy  which is very helpful to heal or replace damaged tissues.


You should talk to your physician about emerging or advanced treatments and whether they are the best option for you or your child.


Frequently Asked Questions


Q1.What are the 4 most common features of Wolfram syndrome?

Ans: Four most common features (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness).

Q2. How is Wolfram syndrome diagnosed?

Ans: If your provider suspects Wolfram syndrome, they'll recommend genetic testing. 


Q3. What is the other name for Wolfram syndrome?

Ans: Wolfram syndrome (MIM 222300) also known as DIDMOAD.

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