Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.

CAUSES

Wolfram syndrome was initially thought to be caused by mitochondrial dysfunction due to its symptoms and several reports of mitochondrial mutations. However, it has now been established that Wolfram syndrome is caused by endoplasmic reticulum dysfunction.

DIAGNOSIS

Patients past medical history can help diagnosis as it may indicate symptoms such as having diabetes mellitus and then developing vision loss. Blood tests can assist with diagnosis as they determine systems within the body are being affected. MRI scans can also help diagnose and determine the level of damage to the brain and body system's.

TREATMENT

There is no known direct treatment. Current treatment efforts focus on managing the complications of Wolfram syndrome, such as diabetes mellitus and diabetes insipidus.However a number of symptoms can be managed to improve quality of life. These include: insulin for diabetes alongside other medications for this. Desmopressin to treat diabetes insipidus, antibiotics for UTI, hearing aids of cochlear implants for hearing loss and supportive aids for visual loss such as magnifying glasses.

New treatment advances include research evaluating ER calcium stabilizers and repurposed drugs/small molecules to reduce ER stress and reduce apoptosis, thus slowing progression of Wolfram syndrome.

Wolfram syndrome,called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.

CAUSES

Wolfram syndrome was initially thought to be caused by mitochondrial dysfunction due to its symptoms and several reports of mitochondrial mutations. However, it has now been established that Wolfram syndrome is caused by endoplasmic reticulum dysfunction.

DIAGNOSIS

Patients past medical history can help diagnosis as it may indicate symptoms such as having diabetes mellitus and then developing vision loss. Blood tests can assist with diagnosis as they determine systems within the body are being affected. MRI scans can also help diagnose and determine the level of damage to the brain and body system's.

TREATMENT

There is no known direct treatment. Current treatment efforts focus on managing the complications of Wolfram syndrome, such as diabetes mellitus and diabetes insipidus.However a number of symptoms can be managed to improve quality of life. These include: insulin for diabetes alongside other medications for this. Desmopressin to treat diabetes insipidus, antibiotics for UTI, hearing aids of cochlear implants for hearing loss and supportive aids for visual loss such as magnifying glasses.

New treatment advances include research evaluating ER calcium stabilizers and repurposed drugs/small molecules to reduce ER stress and reduce apoptosis, thus slowing progression of Wolfram syndrome.

A three tiered approach toward the treatment of Wolfram syndrome includes stopping disease progression, protecting and regrowing remaining tissue, and replacing and repairing pathogenic genes.

A three tiered approach toward the treatment of Wolfram syndrome includes stopping disease progression, protecting and regrowing remaining tissue, and replacing and repairing pathogenic genes.