Young: Medical Genetics
Chapter 5
Niccolò Paganini (1782-1840)
Photo of Niccolò Paganini [Coal drawing by Jean Auguste Dominique Ingres, c. 1819.]
Niccolò Paganini was an outstanding violinist whose name is often associated with the Italian accolade ‘virtuoso’ (someone highly skilled in music or art). He was born in Genoa in Northern Italy and is said to have been a rather delicate child. His musical prowess was soon apparent and he first performed in public at the age of 12 years. In adult life he went on to achieve an international reputation for his formidable technical playing ability with the violin, and to a lesser extent, the guitar. This won him widespread acclaim and a substantial fortune. His fingering and bowing skills were generally agreed to have been unique.
Contemporary descriptions indicate that Paganini had an unusual physical appearance in that he was tall and extremely thin with haggard facial features that made him appear much older than his true chronological age. His skin was said to be soft and wrinkled with prominent veins on his hands. The most striking characteristic was that of a marked increase in joint laxity, which provided him with a phenomenal range of joint movement, particularly in his upper limbs. It was this which enabled him to demonstrate his virtuosity with both fingers and bow, allowing him to play an unprecedented range of octaves in a single hand span. Unfortunately this magnificent musical talent was not matched by good general health for Paganini complained of frequent fatigue and recurrent abdominal pain with episodes of ‘nervous exhaustion’. His death at the age of 58 years was attributed to tuberculosis of the larynx.
With the benefit of hindsight this history of asthenia, coupled with Paganini’s unusual physical features, points to a diagnosis of a connective tissue disorder such as Marfan or the Ehlers-Danlos syndrome (EDS). Marfan syndrome (p 106, 278) would certainly explain his tall stature and long fingers, but the striking joint laxity and skin findings are more in keeping with a diagnosis of one of the many forms of EDS. These are characterised by increased joint laxity, soft hyperextensible skin and variable vascular fragility. In EDS type III, joint hyperextensibily is extreme. In type IV the face is drawn and haggard, while the hands give the appearance of premature aging (‘acrogeria’). Either of these forms could well explain Paganini’s unusual physical attributes. The defect in most forms of EDS lies in collagen or its post-translational processing, as outlined on pages 8 and 9. Paganini’s family history does not provide any additional information about his probable underlying diagnosis.
Whatever the correct explanation for his remarkable joint laxity and other characteristics, Paganini provides another example of an individual who did not allow a genetic disorder to impede his progress in life. Instead he was able to exploit it to his great advantage.
Reference
Schoenfeld MR (1978). Nicolo Paganini. Musical magician and Marfan mutant. Journal of the American Medical Association, 239, 40-42.