Is Wolfram syndrome curable?
Although there are currently no effective treatments that can delay, halt, or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can relieve the debilitating symptoms.
Is Wolfram syndrome a mitochondrial disease?
Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played by mitochondria remains elusive, with contradictory results on the occurrence of mitochondrial dysfunction.
Is Wolfram syndrome genetic?
Wolfram Syndrome is a rare genetic disorder which is also known as DIDMOAD syndrome after its four most common features (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness).
How do you test for Wolfram syndrome?
A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change ( mutation ) in the WFS1 gene or CISD2 gene confirms the diagnosis. The following are the most important features that help with the diagnosis: Juvenile-onset (age <16 years) diabetes mellitus.
What are the symptoms of WFS1 Wolfram syndrome?
Clinical characteristics: WFS1Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic
What kind of genetic disorder is Wolfram syndrome?
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. It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D.
What kind of hearing impairment does Wolfram syndrome cause?
OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment. Wolfram syndrome – Conditions – GTR – NCBI
What’s the life expectancy of someone with Wolfram syndrome?
Life expectancy of people suffering from this syndrome is about 30 years. Recent advances in research have occurred toward establishing a treatment to slow progression of Wolfram syndrome.