• Gastroenterology
• Diagnosis
• Neurodegenerative Diseases
• Pathology
• Patient Care

Type 1 Wolfram syndrome (WS) (MIM#222300) is a rare, autosomal recessive neurodegenerative pathology due to mutation of the WFS1 gene characterised by the association of insulin-dependent diabetes and optic atrophy occurring before the age of 16.1 2 Its prevalence is estimated at 1/770 000 people. Other symptoms can include sensorineural hearing loss, diabetes insipidus, neurological manifestations and urinary disorders with a neurological bladder and polyuria.2 3 Ano-sphincteric disorders have only been reported in one case report and are not taken into account during patient assessments.4 The French Wolfram patient association alerted us about these disabling disorders as a coordinator of the multidisciplinary consultation on this condition within the framework of a reference centre for rare diseases.

In order to better clarify the frequency of those ano-sphincteric disorders, we addressed a questionnaire with a letter explaining the reasons for this research to patients with a clearly identified WS who are taken care of in our rare disease reference centre as well as to all patients …