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Wolfram Syndrome: 3 Things to Learn About This Rare Disease

B
Bajaj Finserv Health
May 13th, 2022
6 mins read

Key Takeaways

  • Wolfram syndrome is a progressive and rare genetic condition
  • Wolfram syndrome prognosis is currently poor as it can prove fatal
  • Major Wolfram syndrome symptoms include diabetes and deafness

Among the rarer genetic conditions is Wolfram syndrome. It is a serious and progressive condition. As it worsens, it impairs normal body function, which can finally lead to premature death. The most distinctive feature of this condition is elevated blood sugar, which occurs due to a lack of the hormone insulin. This leads to several other problems, among which is vision loss. This condition is called optic atrophy and is among the associated conditions linked to Wolfram syndrome. Although the Wolfram syndrome prognosis is poor, you can do a lot of things to manage the symptoms of this disease.

In fact, Wolfram Syndrome is so rare that not all doctors may diagnose it right away. This is mainly because Wolfram syndrome is a neurological and progressive illness that usually starts in childhood [1]. Diagnosis is usually made during childhood based on certain health markers. As such, it is easy to miss, which is why it is important to know all you can about the condition. This can help when you visit a doctor and arm you with the right information; here’s everything to know about the Wolfram syndrome symptoms, causes, and treatment.

Wolfram syndrome symptoms 

Wolfram syndrome symptoms 

Wolfram syndrome is also known as DIDMOAD, which is an acronym for ‘Diabetes Insipidus Diabetes Mellitus Optic Atrophy and Deafness. These are all the core symptoms associated with this disease. Here is a quick breakdown. 

  • Deafness: Starting in adolescence, it gets progressively worse until total deafness. 
  • Diabetes insipidus: This affects the brain’s ability to regulate the hormone vasopressin. A lack of the hormone causes the kidneys to malfunction and increase the production of urine. 
  • Diabetes mellitus: These are a group of diseases that affect how your body uses glucose or blood sugar.
  • Optic atrophy – This is a condition that causes worsening or loss of vision. This is usually noticed during childhood. 

Keep in mind that type 1 and type 2 diabetes, i.e., insipidus and Mellitus, do not have the same cause. Most people with diabetes mellitus do not have insipidus. In the case of Wolfram syndrome, you can eventually develop both diabetes insipidus and Mellitus. The first condition to develop is most likely diabetes mellitus, which, if left unchecked, can cause the affected to slip into a coma [2]. 

avoid this food for Wolfram Syndrome

In addition, Wolfram syndrome may cause other conditions like:

  • Difficulty in swallowing food or drinks
  • Poor taste and smell
  • UTIs
  • Temperature regulation issues
  • Inability to balance [3] or maintain proper coordination
  • Seizures 
  • Fatigue
  • Severe depression 
  • Diarrhea or constipation
  • Impaired growth

Additional Read: Type 2 Diabetes Symptoms: 8 Early Warning Signs You Should Never Ignore!

Wolfram syndrome causes 

Wolfram syndrome is largely caused by gene mutations. In most cases, Wolfram syndrome is passed on from a mother or father who has this syndrome. Here, the WFS1 or WFS2 gene mutations are inherited, giving rise to the genetic disorder.[4] In some cases, children may inherit one normal gene and one mutated gene. Here, the child will be a carrier and may not show symptoms of Wolfram syndrome. Doctors can diagnose the likelihood and confirm the diagnosis with genetic testing.

Diabetes test

Wolfram syndrome treatment options 

Wolfram syndrome is a progressive disease, and treatment usually is limited to the management of symptoms. There is no cure for it, but supportive treatment options can help patients lead better life. Examples of such treatments for Wolfram syndrome are:

  • Insulin, usually prescribed to treat diabetes mellitus
  • Antibiotics to deal with UTIs
  • Hearing aids or special implants to help with the hearing loss
  • Occupational therapy
  • Glasses for vision loss
  • Psychological evaluations and genetic counseling

Other symptoms also can be managed with medications and lifestyle changes. In the future, gene therapy may be an option to treat this disease, and research is underway. 

Additional Read: 10 Important Diabetes Tests for a Healthy Life

Wolfram syndrome is a rare condition which can be fatal if left untreated. With all this important information regarding this disease, you can make the right choice if you or anyone close to you is diagnosed with this condition. You can also book online consultation on Bajaj Finserv Health to learn how to manage the symptoms of this disease. You can further avail guidance on associated health conditions such as diabetes and hypertension by talking to doctors on the platform and leading a healthier life.

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