Objective: To report a unique case of palatal tremor associated with parkinsonism, ataxia and motor neuron disease.

Background: Progressive ataxia with palatal tremor (PAPT) is a rare, ill-defined disorder that can be familial or sporadic. PAPT can occasionally present with parkinsonism, resembling multiple system atrophy, progressive supranuclear palsy, spinocerebellar ataxia and Alexander disease [1]. Recently, two case reports described palatal tremor as a presenting symptom for amyotrophic lateral sclerosis (ALS), although these patients did not have ataxia or parkinsonism [2,3].

Method: Case report.

Results: A 78-year-old man with hypertension, hyperlipidemia, diabetes, cerebral amyloid angiopathy, dementia, and a diagnosis of Parkinson’s disease since 2014 was referred for evaluation of vocal cord dysfunction. His initial symptoms were chronic progressive balance and gait dysfunction, followed by dysarthria and dysphagia starting one year prior to evaluation. ENT laryngoscopy showed weak vocal cord mobility, atrophy and fasciculations. Abnormal involuntary movements at the base of the tongue were also noted. Examination demonstrated a palatal tremor without click, saccadic eye movements, square wave jerks, hypophonic and ataxic speech, bradykinesia, rigidity, profound gait impairment, truncal ataxia and postural instability. Motor examination showed muscle atrophy, fasciculations, and diminished strength in the hip flexors and ankle dorsiflexors. Brisk reflexes were also seen. EMG/NCS showed chronic and active denervation, including the genioglossus, concerning for motor neuron disease. MRI brain was limited by artifact, but showed diffuse volume loss including the midbrain, pons and cerebellum.

Conclusion: Recent case reports suggest that palatal tremor can be seen in ALS. Our patient was found to have palatal tremor, ataxia, parkinsonism, and evidence of motor neuron disease. While the cause of his syndrome is not currently known, this case further highlights the heterogeneity and complexity of PAPT. Presented at Tremor Congress on May 18, 2023.

References: 1. Bhattacharjee, S. Palatal Tremor – Pathophysiology, Clinical Features, Investigations, Management and Future Challenges. Tremor Other Hyperkin Mov, 10:40 (2020).
2. Maghzi, A-H et al. Palatal tremor as a presenting symptom of amyotrophic lateral sclerosis. Neurology, 90(17):801-802 (2018).
3. Rebello, A. et al. Palatal tremor in amyotrophic lateral sclerosis. Mov Disord Clin Pract, 7(8): 990-991 (2020).

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