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When Wolfram syndrome is caused by mutations in the WFS1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. […]
Hypogonadism is seen in some patients. Impaired fertility and erectile dysfunction in male patients and infertility, amenorrhea, and oligomenorrhea in female patients have been reported. These conditions could be treatable and managed in standard way.
Most patients with Wolfram syndrome have diabetes mellitus and bladder dysfunction in combination with diabetes insipidus. The dose escalation of desmopressin for the treatment of diabetes insipidus should be carefully done because demopressin may cause hyponatremia. If the sodium in your blood is too low, you have a condition called hyponatremia. You need some sodium in your […]
Anxiety and depression are commonly seen. Psychosis is seen in some patients but not very common. A consultation with a psychiatrist is recommended. Anxiety and depression are treatable in standard way. Cognitive function is usually normal in patients with Wolfram syndrome, especially in younger patients.
Headache may be related to autonomic dysfunction or neuropathy. Some patients experience sharp and stabbing unilateral pain similar to trigeminal neuralgia. A consultation with a neurologist is recommended. Carbamazepine or amitriptyline has been shown to be effective in some patients.
Autonomic neuropathy is commonly seen in patients with Wolfram syndrome. Signs and symptoms include orthostatic hypotension, anhidrosis, hypohidrosis, hyperhidrosis, constipation, gastroparesis, hypothermia, and hyperpyrexia. A thorough history and review of systems may reveal most of these complaints. Gastrointestinal conditions can be managed by changes in diet, small frequent meals, increased fiber diet, and increased water […]
Brain stem atrophy is a prominent feature that often results in death secondary to central apnea. Polysomnography, as well as overnight oximetry test, can be used as screening studies. Central apnea should be managed by a pulmonologist. Some patients may require tracheostomy.
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