Objective: To describe a rare case of early-onset parkinsonism (EOP) successfully treated with a combined therapeutic approach.

Background: EOP is a rare condition manifesting with onset before age 40 years; a genetic etiology is often considered. Clinical management is challenging and may require a tailored multidisciplinary approach.

Method: We report a case of young woman with a 7-year history of parkinsonism successfully treated with a combined pharmacological and non-pharmacological approach.

Results: A 34-year-old white woman developed marked rigidity on the left lower limb and gait disturbance at the age of 27. Three years after the disease onset, she also developed a progressively worsening dysarthria, fixed dystonia of the left hand fingers, and a partially reducible triple flexion dystonia of the left upper limb, with right pyramidal signs. Her family history was positive for tremor. A DAT-SPECT scan showed a markedly reduced uptake in the right putamen/caudate. MRI showed bilaterally ferromagnetic deposits . Wilson’s disease was ruled out by specific work-up and genetic testing (ATPB7 and ATP1A3 and dystonia related genes) was negative. After 5 years from onset, patient was hospitalized for therapeutic evaluation and intensive rehabilitation training. An L-Dopa test induced a marked improvement in global bradykinesia and rigidity, but worsened the left upper limb dystonic posture. The patient was put on L-Dopa and started a neurorehabilitation program that included the dystonia treatment with botulinumtoxin  type A injections in the left upper limb and a personalized course of daily rehabilitative sessions (120’, 6 days/week for 6 weeks) including gait training, relaxation and equilibrium exercises, and speech therapy.

This combined therapeutic approach led to a marked improvement in global motor performances at the functional scales (FIM 88 to 93; Motricity Index 187 to 276; Tinetti 18 to 23; UPDRS-III 49 to 37).

Conclusion: EOP is a rare disabling condition imposing an insidious diagnostic process, frequently refractory to treatments. Our case contributes to the phenotypic description of the condition and suggests the benefit of a combined therapy approaches. The long-term effect of the proposed treatment is presently under assessment.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/early-onset-levodopa-responsive-parkinsonism-associated-with-dysarthria-pyramidalism-and-dystonia-a-rare-condition-that-can-benefit-from-a-combined-treatment-approach/