Wolfram syndrome
Wolfram Syndrome
Wolfram Syndrome (pronounced: /ˈwʊlfɹɑːm/), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare, genetic disorder, first described by physician Carl Wolfram in 1938.
Etymology
The syndrome is named after Carl Wolfram, the physician who first described the condition. The acronym DIDMOAD is derived from the main features of the syndrome: Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness.
Symptoms
The main symptoms of Wolfram Syndrome include:
- Diabetes insipidus: A condition characterized by frequent urination and thirst.
- Diabetes mellitus: A condition that affects the body's ability to regulate blood sugar levels.
- Optic atrophy: A condition that leads to the progressive loss of vision.
- Deafness: A condition characterized by the loss of hearing.
Other symptoms may include neurological problems, psychiatric disorders, and urinary tract problems.
Diagnosis
Diagnosis of Wolfram Syndrome is based on clinical findings and confirmed by genetic testing for mutations in the WFS1 and WFS2 genes.
Treatment
There is currently no cure for Wolfram Syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of the condition. This may include insulin therapy for diabetes mellitus, hormone replacement therapy for diabetes insipidus, and visual and hearing aids for optic atrophy and deafness.
Prognosis
The prognosis for individuals with Wolfram Syndrome varies. The disease is progressive, and most individuals will experience a decline in their quality of life over time. However, with appropriate management of symptoms, individuals can lead fulfilling lives.
See Also
External links
- Medical encyclopedia article on Wolfram syndrome
- Wikipedia's article - Wolfram syndrome
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