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Genetic and Rare Diseases Information Center (GARD)

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Fowler's syndrome

Other Names for this Disease
  • Fowler Christmas Chapple syndrome
  • Polycystic ovaries urethral sphincter dysfunction
  • Voiding dysfunction and polycystic ovaries
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What is Fowler’s syndrome?

Fowler’s syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease.[1][2] Some women with this syndrome have polycystic ovaries as well.[1][2]
Last updated: 12/31/2013

What are the symptoms of Fowler’s syndrome?

Fowler’s syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort.[1]
Last updated: 12/31/2013

How is Fowler’s syndrome diagnosed?

Diagnosis of Fowler’s syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. Also in Fowler’s syndrome, analysis of the striated muscle of the urethral sphincter using concentric needle electrode examination reveals a fairly unique electromyographic (EMG) abnormality. This EMG abnormality is found in association with the urethral sphincter (group of muscles which surround the urinary passage below the bladder), and consists of a type of activity that would be expected to cause inappropriate contraction of the muscle (i.e., impair sphincter relaxation).[1]
Last updated: 12/31/2013

What causes Fowler’s syndrome?

The cause of Fowler's syndrome is not known. The association of Fowler’s syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality. The involvement of such a hormonal abnormality may also explain why it primarily affects premenopausal women.[1]
Last updated: 12/31/2013

How might Fowler’s syndrome be treated?

The urinary incontinence caused by Fowler’s syndrome may be treated by sacral neuromodulation therapy.[1] The success rate for treatment of Fowler’s syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while.[3]

Neuromodulation therapy involves the stimulation of nerves to the bladder leaving the spine. The FDA has approved a device called InterStim for this purpose. Your doctor will need to test to determine if this device would be helpful to you. The doctor applies an external stimulator to determine if neuromodulation works in you. If you have a 50 percent reduction in symptoms, a surgeon will implant the device. Although neuromodulation can be effective, it is not for everyone. The therapy is expensive, involving surgery with possible surgical revisions and replacement.[3]

Other treatments that have been tried with little success include hormonal manipulation, pharmacologic therapy, and injections of botulinum toxin.[1]

Last updated: 12/31/2013