Wolfram syndrome is characterized by progressive neurodegeneration. The most common problem is ataxia. Cerebellar ataxia should be assessed yearly or twice a year by neurologists. Dysarthria and swallowing disorders (dysphagia) are commonly seen. Swallowing treatment by a speech-language pathologist is beneficial for patients to prevent aspiration pneumonia. Surgical procedures, including esophageal dilation and esophagomyotomy, have […]
Sensorineural hearing loss is one of the common symptoms of Wolfram syndrome and observed in around 70 % of patients. The hearing loss affects the high frequencies first and progresses relatively slowly. Routine audiometry is recommended every year or every 2 years. Auditory brainstem response (ABR) audiometry should be performed at diagnosis to confirm the pathophysiology and […]
Structural and functional urinary tract abnormalities are commonly seen in patients with Wolfram syndrome and significantly affect quality of life. Yearly assessment of renal function, measurement of postvoid residual urine volume by ultrasound, a renal ultrasound, and urodynamic testing are recommended. A large atonic bladder, a low-capacity, high-pressure bladder with sphincteric dyssynergia, and hydroureteronephrosis are […]
About 60 percent of people with Wolfram syndrome develop a neurological or psychiatric disorder, most commonly problems with balance and coordination (ataxia), typically beginning in early adulthood. Other neurological problems experienced by people with Wolfram syndrome include irregular breathing caused by the brain’s inability to control breathing (central apnea), loss of the sense of smell, loss of the gag […]
In diabetes insipidus, the pituitary gland, which is located at the base of the brain, does not function normally. This abnormality disrupts the release of a hormone called vasopressin, which helps control the body’s water balance and urine production. Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus.
Diabetes Mellitus is typically the first symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Diabetes mellitus prevents your body from properly using the energy from the food you eat. Diabetes occurs in one of the following situations: The pancreas (an organ behind your stomach) […]
DID YOU KNOW? 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.[2][8] The following are the most important features that help with the diagnosis:[2] Juvenile-onset (age <16 years) diabetes mellitus Juvenile-onset optic atrophy (age <16 years) Autosomal recessive inheritance
The long-term outlook (prognosis) for people with Wolfram syndrome varies depending on the signs and symptoms present in each person. All the features that give Wolfram syndrome the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) are observed in 65% of people, while others only have some of the associated health problems. Most affected people develop diabetes […]
Washington University School of Medicine Dear Wolfram Community, Since the last newsletter, we have been very busy, both looking backwards to data from previous research clinics and looking forward to our 2019 research clinic. Looking backwards, we submitted two papers for review based on previous research clinic data. One paper is on sleep disturbances in […]
DID YOU KNOW? Wolfram syndrome is inherited in an autosomal recessive manner.[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two […]
You must be logged in to post a comment.