Hereditary Acromelalgia

At a glance

Neurologic movement disorder characterized by an unpleasant sensation in the lower extremities, eliciting intolerable restlessness with twitching and jumping of the legs when the patient is at rest, especially at night.

Synonyms

Restless Legs Syndrome; Acromelalgia-Painful Legs-Moving Toes Syndrome; Anxietas Tibialis Syndrome; Asthenia Crurum Dolorosa; Asthenia Crurum Paresthetica Syndrome; Ekbom Syndrome; Leg Jitters Syndrome; Moving Toe Syndrome; Painful Leg Syndrome; Wittmaack-Ekbom Sequence.

History

First described by the English anatomist Thomas Willis in 1672, then by Theodor Wittmaack, a German clinician, in 1861. Restless legs syndrome may occur as a primary condition (idiopathic) or may be a result of other conditions (secondary or symptomatic restless legs syndrome).

Incidence

Prevalence is evaluated at 5.5% of the general population, with a female predominance. Prevalence increases with age.

Genetic inheritance

The disorder is usually familial and inherited as an autosomal dominant trait. Candidate gene map locus is 12-q21.

Pathophysiology

Unknown. Idiopathic myoclonic jerks occur just prior to sleep and severely affect it. However, it disappears with the onset of stage 1 REM (rapid eye movement) sleep. It is associated with a variety of conditions, including iron deficiency, folic acid anemia, B vitamin deficiency, drug intake (phenothiazine), barbiturate withdrawal, diabetes, renal insufficiency, neuropathy, stroke, and chronic respiratory illness. It is common during pregnancy and is precipitated by fatigue, anxiety, and stress.

Diagnosis

History of repeated, asymmetric flexion jerks of the legs occurring at night just before and interfering with sleep. Acromelalgia, myoclonus, and paresthesia are characteristic.

Clinical aspects

Symptoms worsen with age. Hereditary acromelalgia is a lifelong condition with no cure. Opioids are effective for relieving pain, and correction of iron deficiency may improve symptoms for some patients. Sleep deprivation may become severe with increasing age.

Precautions before anesthesia

Check usual medication (affected patients often take either neuroleptic and/or sedative medications). Ensure that regular medications are continued until the morning of surgery. Check red blood cell count and evaluate for iron deficiency.

Anesthetic considerations

No specific considerations with this condition.

Pharmacological implications

None reported. Most affected patients take medications such as temazepam, levodopa/carbidopa, bromocriptine, pergolide mesylate, oxycodone, propoxyphene, and codeine, which are effective in relieving symptoms but may interfere with anesthesia and requirements for postoperative pain relief.

Other condition to be considered

• ☞Erythromelalgia: Characterized by repeated episodes of paroxysmal vasodilation with burning pain in the hands and feet. Diminished sensitivity to temperature changes, especially with cold acting as pain depressor and heat as stimulator. It ...