Milroy disease

How is Milroy disease inherited?

Milroy disease is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.

Most people with Milroy disease have an affected parent, but some cases are due to new mutations that occur for the first time in the affected person. About 10-15% of people with a mutation in the responsible gene do not develop features of the condition. This phenomenon is called reduced penetrance.

Last updated on 05-01-20

How can I learn about research involving Nonne-Milroy disease?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. While there are no studies specifically for Nonne-Milroy disease listed at this time, there are three clinical trials enrolling people with lymphedema in general. We have listed the study titles and links to Web pages where you can read more about them below. After you click on a study, review its 'eligibility' criteria to determine its appropriateness. Use the study’s contact information to learn more.

Validation of Metrological Properties of Questionnaire of Quality of Life LYMPHOQOL
[http://www.clinicaltrials.gov/ct2/show/NCT01922635?term=Nonne- Milroy+disease&recr=Open&no_unk=Y&rank=1

](http://www.clinicaltrials.gov/ct2/show/NCT01922635?term=Nonne- Milroy+disease&recr=Open&no_unk=Y&rank=1)Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders
http://www.clinicaltrials.gov/ct2/show/NCT00833599?term=Nonne- Milroy+disease&recr=Open&no_unk=Y&rank=2

Validation of a New Method of Limb Volumetry
http://www.clinicaltrials.gov/ct2/show/NCT01574911?term=Nonne- Milroy+disease&recr=Open&no_unk=Y&rank=3

You can check ClinicalTrials.gov for additional on-going studies. To do so click on the link and use 'lymphedema NOT cancer' or 'Milroy' as your search term.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to provide your telephone number in full, including area code and international dialing prefix.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site: http://clinicalcenter.nih.gov/

If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
http://www.nlm.nih.gov/medlineplus/tutorials/clinicaltrials/htm/index.htm[

](http://www.nlm.nih.gov/medlineplus/tutorials/clinicaltrials/htm/index.htm)Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/resources/5#category17

Last updated on 05-01-20

What is reduced penetrance?

Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a person’s family medical history and predict the risk of passing a genetic condition to future generations.

Last updated on 05-01-20

What is variable expression?

Although some genetic disorders exhibit little variation, most have signs and symptoms that differ among affected individuals. Variable expressivity refers to the range of signs and symptoms that can occur in different people with the same genetic condition. As with reduced penetrance, variable expressivity is probably caused by a combination of genetic, environmental, and lifestyle factors, most of which have not been identified. If a genetic condition has highly variable signs and symptoms, it may be challenging to diagnose.

Last updated on 05-01-20

What is the long-term outlook for people with Milroy disease?

The symptoms and severity of Milroy disease can vary among affected people (even within the same family), so the long-term effects of the condition may be difficult to predict. Swelling varies in degree and distribution, and can be disabling and disfiguring. For some people the outlook depends on how chronic the lymphedema is, as well as whether complications arise. However, Milroy disease is rarely associated with significant complications.

The degree of edema sometimes progresses, but in some cases can improve (particularly in early years). Complications of lymphedema may include recurrent bouts of cellulitis and/or lymphangitis, bacterial and fungal infections, deep venous thrombosis, functional impairment, cosmetic embarrassment, and amputation. Complications following surgery are common. It has also been reported that people with chronic lymphedema for many years may have a significantly higher risk to develop lymphangiosarcoma (a type of angiosarcoma). This type of tumor is highly aggressive and has a very poor prognosis.

Last updated on 05-01-20

How might Milroy disease be treated?

Management is typically conservative and usually successful in most people. The goal of treatment is to reduce swelling and prevent complications. Management of lymphedema should be guided by a lymphedema therapist. Complete decongestive therapy (CDT) may be used for manual lymph drainage combined with compression bandaging, skin care, exercise, and well- fitted compression garments. Some improvement is usually possible using these methods. Various surgical techniques (to reduce swelling by creating new pathways for lymphatic fluid to flow) have been tried, but with limited success.

To prevent cellulitis, foot infections (such as athlete's foot) should be treated promptly and prevented, and prophylactic antibiotics may be needed in recurrent cases. When possible, people with Milroy disease should try to avoid wounds to swollen areas, long periods of immobility, medications that can cause increased leg swelling (such as calcium channel-blocking drugs and non-steroidal anti-inflammatory drugs), and excessive salt intake which can cause fluid retention.

Last updated on 05-01-20

Name: Lymphatic Education and Research Network 261 Madison Avenue
New York, NY, 10016, United States
Phone: +1-516-625-9675 Fax : +1-516-625-9410 Email: lern@lymphaticnetwork.org Url: https://lymphaticnetwork.org/
Name: National Lymphedema Network (NLN) 411 Lafayette Street, 6th Floor
New York, NY, 10003, United States
Toll Free: +1- 646-722-7410 Email: nln@lymphnet.org Url: http://www.lymphnet.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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