Two cases with postural axial tremor: Consider a genetic origin.

Area of Science:

• Neurology
• Movement Disorders
• Genetics

Background:

• Postural axial tremor is a rare and complex movement disorder.
• While often linked to acquired cerebellar pathology, genetic causes are also documented.
• Differentiating it from other axial hyperkinetic movement disorders is crucial.

Observation:

• Two cases of postural axial tremor involving head, trunk, and shoulders are presented.
• The first patient experienced multiple daily attacks of tremor lasting ~10 minutes.
• The second patient had progressive head and arm tremor, exacerbated by sitting and standing.

Findings:

• Electrophysiology confirmed postural axial tremor with variable frequencies (3-10 Hz) across and within muscles.
• The cases illustrate diagnostic challenges in distinguishing paroxysmal axial tremor.
• Genetic heterogeneity of this phenotype is expanded.

Implications:

• These cases enhance understanding of postural axial tremor's clinical presentation.
• The findings contribute to differentiating this disorder from other hyperkinetic movement disorders.
• This research broadens the known genetic spectrum associated with axial tremor phenotypes.