Pure hypotonia in a four-year-old patient: An atypical presentation of Dopa-responsive dystonia


      • Dopa-responsive Dystonia (DRD) is a levodopa responsive, progressive, lower extremity dystonia with diurnal variation.
      • This condition can manifest with other symptoms including intellectual disability, seizures, autonomic dysfunction, and cerebral palsy.
      • DRD can cause pure hypotonia without dystonia or other extrapyramidal signs.
      • Consider this diagnosis and a trial of Levodopa in pediatric patients with unexplained hypotonia.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Journal of the Neurological Sciences
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Segawa M.
        • Nomura Y.
        Hereditary progressive dystonia with marked diurnal fluctuation.
        in: Segawa M. Hereditary Progressive Dystonia with Marked Diurnal Fluctuation. Parthenon Publishing, New York1993: 3-19
        • Weng Y.C.
        • Wang C.C.
        • Wu Y.R.
        Atypical presentation of dopa-responsive dystonia in Taiwan.
        Brain Behav. 2018; 8
        • Lee J.Y.
        • Yang H.J.
        • Kim J.M.
        • Jeon B.S.
        Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
        Parkinsonism Relat. Disord. 2013; 19: 1156-1159
        • Kim R.
        • Jeon B.
        • Lee W.
        A systematic review of treatment outcome in patients with Dopa-responsive dystonia (DRD) and DRD-plus.
        Mov. Disord. Clin. Pract. 2016; 3: 435-442
        • Lee W.W.
        • Jeon B.S.
        Clinical spectrum of dopa-responsive dystonia and related disorders.
        Curr. Neurol. Neurosci. Rep. 2014; 14 (serial online): 461
        • Nygaard T.G.
        • Waran S.P.
        • Levine R.A.
        • Naini A.B.
        • Chutorian A.M.
        Dopa-responsive dystonia simulating cerebral palsy.
        Pediatr. Neurol. 1994 Oct; 11: 236-240
        • Abeling N.G.
        • Duran M.
        • Bakker H.D.
        • Stroomer L.
        • Thöny B.
        • Blau N.
        • Booij J.
        • Poll-The B.T.
        Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
        Mol. Genet. Metab. 2006 Sep-Oct; 89: 116-120
        • Kong C.K.
        • Ko C.H.
        • Tong S.F.
        • Lam C.W.
        Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.
        Neurology. 2001 Sep 25; 57: 1121-1124
        • Trender-Gerhard I.
        • Sweeney M.G.
        • Schwingenschuh P.
        • Mir P.
        • Edwards M.J.
        • Gerhard A.
        • Polke J.M.
        • Hanna M.G.
        • Davis M.B.
        • Wood N.W.
        • Bhatia K.P.
        Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
        J. Neurol. Neurosurg. Psychiatry. 2009 Aug; 80: 839-845