Question: What are the symptoms of Madelung disease ?
Answer: 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. The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. 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. In some cases, it may be associated with other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease. 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) 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 - Lipoma - Peripheral neuropathy - 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.
Source: GARD

Question: What causes Madelung disease ?
Answer: What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.
Source: GARD

Question: Is Madelung disease inherited ?
Answer: Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.
Source: GARD

Question: How to diagnose Madelung disease ?
Answer: How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.
Source: GARD

Question: What are the treatments for Madelung disease ?
Answer: How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.
Source: GARD