The German surgeon Otto Wilhelm Madelung was the first to give a detailed description of the disorder in 1888, followed by Launois and Bensaude in 1898.

Large fat deposits around the neck, and more rarely in the tongue, may negatively affect breathing, swallowing, and speaking.

[5][4] There have also been reports of peripheral neuropathy, ragged red fibres in muscle cells (suggesting mitochondrial myopathy), sudden cardiac death, and neurological involvement, although it is unknown whether these are due to prolonged alcohol use disorder as such symptoms of mitochondrial dysfunction also appear in alcoholics without Madelung's disease.

[5][4][15][16] However, rarely, instances of mitochondrial dysfunction (high lactate/low pyruvate, polyneuropathy, decreased cytochrome c oxidase and abnormal mitochondria) have been documented in non-alcoholics with Madelung's disease.

[2][15][16] Cosmetic disfigurement due to the fat deposition in the cervicothoracic region results in a "pseudoathletic appearance," resembling the Italian statue Warrior of Capestrano and carvings of Queen of Punt (Egypt).