Willis-Ekbom disease

Description

Willis-Ekbom disease (WED) or Restless leg syndrome (RLS) is characterised by:

1. a ‘compulsive’ restlessness or need to move the legs, often associated with paraesthesiae or dysaesthesiae,
2. symptoms at rest or disturbing sleep, quickly but temporarily relieved by standing and walking,
3. nocturnal worsening of symptoms.
4. Additionally, 75% of patients also experience periodic limb movement disorder characterized by involuntary leg twitching or jerking movements during sleep, which typically occur every 10–60 s throughout the night.

Restless leg syndrome appears to be an enigmatic disorder probably influenced by heterogeneous environmental and genetic factors that may work through a variety of so far ill-defined neurochemical systems. [JMS Pearce 2005]

• RLS is associated with iron deficiency, pregnancy, phenothiazines, barbiturate withdrawal, diabetes, uraemia, and respiratory failure. Sudden jerks on falling asleep may be observed also in otherwise normal persons. Probably heterogeneous, Ekbom’s syndrome can occur as a familial condition transmitted as an autosomal dominant trait.
• New conservative and pharmacological approaches to management outlined in 2013 consensus statement

History

1685 – Thomas Willis records in his posthumous publication The London Practice of Physick (1685):

Wherefore to some, when being abed they betake themselves to sleep, presently in the arms and legs, leapings and contractions of the tendons, and so great a restlessness and tossing of their members ensue, that the diseased are no more able to sleep, than if they were in a place of the greatest torture

Willis: Of the Watching Evil 1685: 404-405 [PDF]

1846 – Moritz Heinrich Romberg – in his chapter on ‘hyperaesthesia of the nerves of muscular sense‘, Romberg describes the syndrome as ‘Anxietas tibiarum‘.

“Anxietas tibiarum’’, a sense of painful restlessness in the lower extremities, especially in the legs and feet. ‘‘The patient’’ did not know what to do with them (…) though there was relief by change of position

[1853 Vol I translation]

1861 – Theodor Wittmaack (1817-1873) a German physician with neurological interests discussed Anxietas tibiarum (‘timidity of the shins‘) in his textbook of nervous diseases. He related the condition to hysteria.

..a strange but descriptive compulsion to move has invaded the legs of the inflicted person. Every moment sees the legs brought into a different position; drawn up, stretched out, abducted, spread apart and crossed over one another. However, these movements are not sudden or violent, rather they are slow, mindful as if it were of eventually finding the one position that will give the most relief. In every strange description of the nervous tension of hysteria one often also finds this train of involuntary agitation displayed in the legs and feet. The same thing also occurs however elsewhere without one being able to find a definite cause…the condition lasts approximately a quarter of an hour

Wittmaack 1861

1923 – Hermann Oppenheim was the first to define the disease as a neurological illness and to recognize a familial component in his Lehrbuch der Nervenkrankheiten.

Restlessness in the legs is a special kind of subjective paralgesia. It can become an agonizing torture, lasting for years or decades and can be passed on and occur in other members of the family

Oppenheim 1923

1944-1946 – Ekbom wrote a series of papers refining RLS. His work distinguished two forms, one with paraesthesiae (Asthenia crurum paraesthetica), the other painful (Asthenia crurum dolorosa). However in 1945 Ekbom settled for ‘restless legs syndrome’.

A clinical study of a hitherto overlooked disease in the legs characterized by peculiar paraesthesia, pain and weakness and occurring in two main forms, asthenia crurum paraesthetica and asthenia dolorosa

Associated Persons

• Thomas Willis  (1621-1675)
• Moritz Heinrich Romberg (1795-1873)
• Theodor Wittmaack (1817-1873)
• Hermann Oppenheim (1858-1919)
• Karl-Axel Ekbom (1907-1977)

Alternative names

• Restless legs syndrome (RLS) [Ekbom 1945]
• Wittmaack-Ekbom syndrome

References

• Willis T. The London Practice of Physick: Or the Whole Practical Part of Physick Contained in the Works of Dr. Willis. 1685 [Of the Watching Evil, p404]
• Romberg MH. [English translation: Sieveking EH.  A manual of the nervous diseases of man. Volume I, Volume II] Sydenham society 1853
• Wittmaack T. Anxietas Tibiarum. In: Pathologie und Therapie der Sensibilität Neurosen. Leipzig: E. Schäfer; 1861. p. 459
• Oppenheim H. Lehrbuch der Nervenkrankheiten, ed 7. Berlin, Karger, 1923, p 1774.
• Ekbom KA. Restless Legs Syndrome: A Clinical Study of a Hitherto Overlooked Disease in the Legs Characterized by Peculiar paresthesia (‘anxietas Tibiarum’), Pain and Weakness and Occurring It Two Main Forms, asthenia Crurum Paraesthetica and asthenia Crurum Dolorosa. 1944.
• Ekbom KA. Asthenia crurum paraesthetica (“irritable legs”): A new syndrome consisting of weakness, sensation of cold and nocturnal paresthesia in legs, responding to certain extent to treatment with priscol and doryl. Note on paresthesis in general. Acta Medica Scandinavica, Stockholm, 1944; 118: 197-209.
• Ekbom KA. Restless legs. Sven Lakartidn. 1951 Apr 13;48(15):862-72.
• Ekbom KA. Restless legs syndrome. Neurology. 1960; 10: 868-73.
• Ekbom K, Ekbom KA. [An early Swedish description of restless legs (Huss 1849)]. Lakartidningen. 1974; 71(32): 2905-6.
• Mathews WB. Iron deficiency and restless legs syndrome. BMJ 1976; 1: 898–899.
• Pearce JMS. Restless Leg Syndrome. Eur Neurol. 2005; 53(4): 206-7.
• Silber MH et al. Willis-Ekbom Disease Foundation Revised Consensus Statement on the Management of Restless Legs Syndrome. Mayo Clin Proc. 2013 Sep;88(9):977-86