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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Madelung disease


Other Names for this Disease

  • Benign symmetrical lipomatosis
  • Familial symmetric lipomatosis
  • Launois-Bensaude syndrome
  • Madelung's disease
  • Multiple symmetric lipomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Madelung disease?

The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years.[1] The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain.[2] In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances.[3]

People with Madelung disease may also develop peripheral neuropathy and neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues.[4] In some cases, it may be associated with other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease.[1][5]
Last updated: 11/19/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Madelung disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of adipose tissue 90%
Arthralgia 90%
Limitation of joint mobility 90%
Multiple lipomas 90%
Gait disturbance 50%
Hepatomegaly 50%
Insulin resistance 50%
Paresthesia 50%
Abnormality of the skin -
Autosomal dominant inheritance -
Peripheral neuropathy -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Madelung's Disease. NORD. April 1, 2005; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/778/viewAbstract.
  2. Marie-Christine Vantyghem. Familial symmetric lipomatosis. Orphanet. October 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2398. Accessed 6/28/2013.
  3. Ramos S, Pinheiro S, Diogo C, Cabral L, Cruzeiro C. Madelung disease: a not-so-rare disorder. Ann Plast Surg. January 2010; 64(1):122-124.
  4. Alameda YA, Torres L, Perez-Mitchell C, Riera A. Madelung disease: A clinical diagnosis. Otolaryngology-Head and Neck Surgery. September 2009; 141(3):418-419.
  5. Mimica M, Pravdic D, Nakas-Icindic E, Karin M, Babic E, Tomic M, Bevanda M. Multiple symmetric lipomatosis: a diagnostic dilemma. Case Rep Med. 2013; 2013:1-4. Accessed 11/19/2014.


Other Names for this Disease
  • Benign symmetrical lipomatosis
  • Familial symmetric lipomatosis
  • Launois-Bensaude syndrome
  • Madelung's disease
  • Multiple symmetric lipomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.