From the Guidelines
Familial etiologies of cervical tremor with involuntary eye movements should be managed with a focus on symptomatic treatment and genetic testing, prioritizing essential tremor and spinocerebellar ataxias as primary considerations. The most recent and highest quality study, 1, provides guidance on the evaluation of ataxia in children, which can be applied to the assessment of cervical tremor with involuntary eye movements in a familial context.
Key Considerations
- Essential tremor has a strong genetic component, with approximately 50-70% of cases showing familial inheritance, typically in an autosomal dominant pattern 1.
- Spinocerebellar ataxias, particularly SCA1, SCA2, SCA3, and SCA6, can present with cervical tremor and nystagmus or other abnormal eye movements, inherited in an autosomal dominant pattern with variable penetrance 1.
- Other familial conditions to consider include oculopalatal tremor syndrome and rare genetic disorders like Whipple's disease with neurological manifestations 1.
- Genetic testing is recommended for patients with a family history of similar symptoms, early onset of symptoms, or when multiple family members are affected 1.
Management
- Symptomatic treatment with medications such as propranolol (40-320 mg daily) or primidone (50-250 mg daily) for tremor control is typically involved, while specific treatments for underlying genetic disorders may vary based on the exact diagnosis 1.
- The use of botulinum neurotoxin for the treatment of cervical dystonia, which may be associated with cervical tremor, is supported by evidence, with all FDA-approved formulations being commonly used despite differing evidence levels 1.
Diagnostic Approach
- Evaluation of ataxia requires careful review of demographics, history, clinical examination, laboratory testing, and neuroimaging to reach a cohesive diagnosis 1.
- MRI of the entire brain without and with IV contrast is the preferred modality for initial assessment for a mass, any process that may result in edema and enhancement, and neurodegenerative disorders 1.
From the Research
Cervical Tremor with Involuntary Eye Movement Familial Etiologies
- There are no direct research papers provided to assist in answering this question regarding cervical tremor with involuntary eye movement familial etiologies.
- However, the provided studies discuss essential tremor, its characteristics, and treatment options 2, 3, 4, 5, 6.
- Essential tremor is often familial and can be accompanied by tremor of the head, voice, or lower limbs 4.
- The condition may be transiently responsive to alcohol and is characterized by a bilateral action tremor of the upper limbs 4.
- Treatment options for essential tremor include propranolol and primidone as first-line medications, as well as deep brain stimulation, focused ultrasound, and botulinum toxin injections for more severe cases 2, 3, 4, 5, 6.
- Recent research explores novel oral treatments, chemodenervation, and noninvasive neuromodulation for the treatment of essential tremor 5.