Mixed Motor Disorder: Essential Tremor Families With Heterogeneous Motor Phenomenology.

BACKGROUND AND OBJECTIVES

Essential tremor (ET) is one of the most prevalent movement disorders. Because ET is so common, individuals with other neurologic disorders may also have ET. There is evidence, however, that the cooccurrence of ET with Parkinson disease (PD) and/or dystonia is not merely a chance cooccurrence. We have observed combinations of these 3 movement disorders within individuals and across individuals within families containing multiple individuals with ET. This observation has a number of implications. Our objective is to present 4 ET families in whom motor phenomenology was heterogeneous and discuss the implications of this finding.

METHODS

ET cases and their relatives were enrolled in the Family Study of Essential Tremor (2015-present). Phenotyping was performed by a senior movement disorders neurologist based on neurologic examination.

RESULTS

We present 4 families, including 14 affected individuals, among whom assigned diagnoses were ET, PD, ET + PD, and ET + dystonia. In those with ET and another movement disorder, the predominant and earliest phenotype was ET.

DISCUSSION

There are assortments of these 3 involuntary motor disorders, ET, dystonia, and PD, both within individuals and in different individuals within ET families. This observation has mechanistic implications. Furthermore, we believe that the concept of the mixed motor disorder should enter into and inform the clinical dialogue. In assigning diagnoses, clinicians are swayed by family history information, and they should be prepared to observe a mix of different motor disorders to manifest within particular families.