Childhood-onset restless Legs syndrome: Clinical and genetic features of 22 families

Hiltrud Muhle, Anja Neumann, Katja Lohmann-Hedrich, Thora Lohnau, Yang Lu, Susen Winkler, Stephan Waltz, Anke Fischenbeck, Patricia L. Kramer, Christine Klein, Ulrich Stephani

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


Restless legs syndrome (RLS) is a sensory-motor disorder that is underdiagnosed in children and often misclasified as attention deficit hyperactivity disorder. Five different gene loci (RLS1-5) and three susceptibility loci have been identified in adult-onset RLS. We included 23 children with RLS (age at onset ≤14 years) from 22 families. In 14 families, we performed linkage and genotype analyses. Of the 23 RLS patients, only seven (30.4%) were admitted for a suspected diagnosis of RLS. Five patients had a retrospectively established onset at an age as early as 1 year. The most frequent complaint in patients were sleep problems (21 of 23; 91%) resulting in fatigue in 14 children (60.9%). Twelve of the 19 tested cases (63.2%) exhibited an index of periodic limb movements in sleep greater than 5. Dopaminergic therapy was successful in 12 of 14 treated patients (85.7%). Family history for RLS was positive in 20 of 23 children (87.0%) and compatible with an autosomal dominant inheritance pattern. Linkage analysis excluded all five loci in two families. A trend for an association at two of the three reported susceptibility regions was observed. RLS symptoms can occur in early childhood. The positive family history suggests a genetic cause in most families with at least one additional RLS gene locus.

Original languageEnglish (US)
Pages (from-to)1113-1121
Number of pages9
JournalMovement Disorders
Issue number8
StatePublished - Jun 15 2008
Externally publishedYes


  • Children
  • Clinical course
  • Genetics
  • Restless legs syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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