Wolfram syndrome is an inherited yet rare genetic disorder. The disorder is also known as DIDMOAD acknowledged after the most common features- Diabetes Insipidus (DI), childhood-onset diabetes mellitus (DM), Optic Atrophy (OA) and Deafness (D.)

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In WS (Wolfram Syndrome), there’s a shortage of the hormone insulin that results in high blood sugar levels and a continuous loss of vision as the nerves that carry information from the eyes to the brain deteriorates. In general, the disease affects the central nervous system.

Symptoms of Wolfram Syndrome:

So far, Wolfram Syndrome appears to have two types which are Type 1 and Type 2. Wolfram syndrome type has many overlapping features. Where type 1 is known as the acronym DIDMOAD again characterized as diabetes insipidus, childhood-onset diabetes mellitus, loss of vision, and deafness.

The symptoms type 1 may include:

1. Urinary tract problems
2. Problems with balance and coordination (ataxia)
3. Loss of the sense of smell
4. Gag reflex loss
5. Muscle spasms (myoclonus)
6. Seizures
7. Problem with sensation in the lower limbs
8. Depression
9. Psychosis
10. Intellectual disability
11. Central respiratory failure or central apnea
12. Reduced amounts of the sex hormone testosterone in males.

On the other hand, in addition to type 1 symptoms, type 2 tends to have symptoms such as:

1. Stomach and/or intestinal ulcers
2. Bleeding excessively after injuries
3. Also, abnormal bleeding in the gastrointestinal system

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What are the Causes of Wolfram Syndrome?

Initially, the cause was related to the abnormality of mitochondrial due to the shown symptoms and mutations of mitochondrial. Later, it’s been established that the cause was related to the impaired endoplasmic reticulum.

WFS 1 gene

Wolfram Syndrome type 1 cases are mostly associated with mutations in the WFS1 gene. The gene instructs about the production of proteins called wolframin that regulates the amount of calcium in the cell. A proper balance of calcium is important for many different cellular functions.

Due to the mutations in the gene cause reduction and absence of protein. Consequently, no proper regulation of calcium levels within cells and improper functioning of the endoplasmic reticulum leads to the cell triggers its cell death. And the death of the pancreas cell causes diabetes mellitus in people with Wolfram syndrome.

CISD2 gene

On the contrary, CISD2 gene mutation was related to Wolfram syndrome type 2. Certain mutations in the CISD2 gene results in dysfunctional CISD2 protein. As an outcome, no proper maintenance of mitochondria leads to their break down. And due to the break down of mitochondria that provide energy to the cells cause the death of cells. Besides, nerve cells in the brain, eye, or gastrointestinal tract requires high energy. That’s why people with CISD2 gene mutations have ulcers and bleeding problems and all in all- WS type 2.

Diagnosis of Wolfram Syndrome:

1. With the assistance of a blood test, various effects on the systems within the body can be identified.
2. Patients with past medical histories can assist in diagnosis.
3. Besides, determining the level of damage to the brain and body system, MRI scans can also help in diagnosis.

For now, there are no known and direct treatment for Wolfram Syndrome. Yet the treatment efforts are toward managing the complication of Wolfram syndrome as in diabetes mellitus and diabetes insipidus. However, to improve the quality of life there are efforts based to manage the symptoms. Further, advance treatment and researches are still being understudied.

To get an instant appointment or consultation regarding Wolfram Syndrome treatment, you can contact us on Whatsapp (+91 9654030724) or email us at connect@gomedii.com, regarding our services. Our team will get back to you as soon as possible.

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