1. ESSENTIAL (FAMILIAL) TREMOR
ESSENTIALS OF DIAGNOSIS
Postural tremor of hands, head, or voice.
Family history common.
May improve temporarily with alcohol.
No abnormal findings other than tremor.
The cause of essential tremor is uncertain, but it is sometimes inherited in an autosomal dominant manner. Responsible genes have been identified at 3q13, 2p22-p25, and 6p23.
Tremor may begin at any age and is enhanced by emotional stress. The tremor usually involves one or both hands, the head, or the hands and head, while the legs tend to be spared. The tremor is not present at rest, but emerges with action. Examination reveals no other abnormalities. Ingestion of a small quantity of alcohol commonly provides remarkable but short-lived relief by an unknown mechanism.
The tremor typically becomes more conspicuous with time. Occasionally, it interferes with manual skills and leads to impairment of handwriting. Speech may also be affected if the laryngeal muscles are involved.
Treatment is often unnecessary. When it is required because of disability, propranolol (60–240 mg daily orally) may be helpful. Long-term therapy is typical; however, intermittent therapy is sometimes useful in patients whose tremor becomes exacerbated in specific predictable situations. Primidone may be helpful when propranolol is ineffective, but patients with essential tremor are often very sensitive to it. Therefore, the starting dose is 50 mg daily orally, and the daily dose is increased by 50 mg every 2 weeks depending on the patient’s response; a maintenance dose of 125 mg three times daily orally is commonly effective. Occasional patients do not respond to these measures but are helped by alprazolam (up to 3 mg daily orally in divided doses), topiramate (titrated up to a dose of 400 mg daily orally in divided doses over about 8 weeks), or gabapentin (1800 mg daily orally in divided doses). Botulinum toxin A may reduce tremor, but adverse effects include dose-dependent weakness of the injected muscles.
Disabling tremor unresponsive to medical treatment may be helped by high-frequency thalamic stimulation (“deep brain stimulation”) on one or both sides, according to the laterality of symptoms. Focused transcranial ultrasound thalamotomy using MRI guidance is also effective, as is stereotactic radiosurgery for unilateral upper extremity tremor.
When refractory to first-line treatment with propranolol or primidone.
When additional neurologic signs are present (ie, parkinsonism).
Patients requiring surgical treatment (deep brain stimulator placement) should be hospitalized.
ESSENTIALS OF DIAGNOSIS
Any combination of tremor, rigidity, bradykinesia, and progressive postural instability (“parkinsonism”).
Cognitive impairment ...