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Essential genetic testing in movement disorders - results from a Delphi study.

Vanessa Carvalho¹, Leonor Correia Guedes², Emilia Gatto³

¹Departamento de Neurociências e Saúde Mental, Unidade Local de Saúde de Santa Maria, Lisboa, Portugal; Centro de Estudos Egas Moniz, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal; Programa Doutoral em Investigação Clínica e Serviços de Saúde, Faculdade de Medicina, Universidade do Porto, Porto, Portugal.

Parkinsonism & Related Disorders

|May 27, 2026

Summary

A global panel of movement disorder (MD) experts identified 59 essential genetic disorders for molecular testing. This list aids clinicians in diagnosing and managing patients with genetic movement disorders, improving care access.

Keywords:

Movement disorders Neurogenetics Next-generation sequencing

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Area of Science:

Neurology
Genetics
Medical Diagnostics

Background:

Genetic testing for movement disorders (MD) has grown significantly.
Global access to genetic testing and counseling is unequal.
Standardized guidance for efficient testing strategies is needed for clinicians and policymakers.

Purpose of the Study:

To establish a consensus list of essential genetic movement disorders for expert identification.
To guide clinical practice and resource allocation in genetic MD diagnostics.

Main Methods:

Searched OMIM and MDS Gene databases for MD-associated genes.
Collected data on available genetic tests from European laboratories.
Utilized a two-round Delphi method with movement disorder experts to determine essential tests based on clinical management impact.

Main Results:

Experts identified 59 essential genetic disorders for molecular testing in adult MD clinics.
The list includes genes for ataxia, parkinsonism, dystonia, chorea, and other MD subtypes.
Sixteen disorders achieved full expert consensus, including Huntington's disease and specific forms of Parkinson's and ataxia.

Conclusions:

A definitive list of genetic movement disorders requiring molecular testing in adult centers has been established.
This expert-driven list will aid in standardizing diagnostic approaches and improving patient management for genetic MD.
The findings support the need for equitable access to genetic diagnostics and counseling in movement disorders.