National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Fowler's syndrome


Other Names:
Voiding dysfunction and polycystic ovaries; Polycystic ovaries urethral sphincter dysfunction; Fowler Christmas Chapple syndrome
Categories:
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
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormality of the urethra
Urethra issue
0000795
Dysuria
Painful or difficult urination
0100518
EMG abnormality 0003457
Polycystic ovaries 0000147
5%-29% of people have these symptoms
Acne 0001061
Hirsutism
Excessive hairiness
0001007
Oligomenorrhea
Light or infrequent menstrual periods
0000876
Urinary retention 0000016
1%-4% of people have these symptoms
Amenorrhea
Abnormal absence of menstruation
0000141
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Urinary incontinence
Loss of bladder control
0000020
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Last updated: 7/1/2020
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
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
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

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fowler's syndrome. Click on the link to view a sample search on this topic.

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  1. Wein Aj. Lower Urinary Tract Dysfunction in Neurologic Injury and Disease. In: Wein et al. Campbell-Walsh Urology, 9th ed. Philadelphia, PA: Saunders; 2007;
  2. Polycystic ovaries - urethral sphincter dysfunction. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2795. Accessed 12/31/2013.
  3. Urinary Incontinence in Women. National Institute of Diabetes and Digestive and Kidney Diseases. September 18, 2013; http://kidney.niddk.nih.gov/kudiseases/pubs/uiwomen/index.htm. Accessed 12/31/2013.