Familial tremor (FT) is a subtype of essential tremor (ET) that is autosomal dominant. ET and FT are common causes of tremors and can affect individuals both in childhood and adulthood.
Presentation
Familial tremor is described as a form of essential tremor. It is present in more than one individual in a family. It has a genetic component and is inherited in an autosomal dominant pattern. Variants in the LINGO1 (leucine-rich repeat and immunoglobulin domain-containing protein 1) gene have been found to be a predisposing factor for the disease, although the gene responsible for FT has yet to be identified [1].
The clinical features of FT and non-familial ET are almost identical, with the distinction of a negative family history of tremors in sporadic ET. It is further suggested that FT has an earlier age of onset than sporadic ET [2]. Most cases of ET have an onset in middle age, and a minority occur in children and the elderly.
There is no single definition of ET, however, The Movement Disorder Society's Tremor Investigation Group states that in cases of ET, there should not be an underlying etiology [3]. The presentation varies greatly between individuals [4].
The effects of the tremor are most prominent in the upper extremities and rarely affect the lower limbs. Patients may have difficulty carrying out motor tasks such as writing, holding objects and using tools or utensils. In addition, there may be involvement of muscle groups in the head, neck, and eyes. This gives rise to features such as head nodding and vocal tremor.
The amplitude and frequency of tremors vary but may be less prominent at rest. Some patients experience paroxysmal tremors. Although symmetry is a typical feature, a degree of asymmetry is not uncommon. Moreover, tremors are exacerbated by caffeine, heightened emotional states, hunger, certain drugs, and sleep deprivation. In contrast, tremors are alleviated by the ingestion of alcohol (this has been used in the diagnosis of ET) and sleep [5]. The signs are progressive, usually over many years [6]. ET that is diagnosed after the fifth decade of life, tends to progress more rapidly [2].
In a small proportion of reported cases, individuals exhibit neurological symptoms that may include ataxia, dysmetria, intention tremor, and other cerebellar signs [7].
Workup
There is no specific diagnostic test for essential tremor and familial tremor, thus the diagnosis is often clinical. If there are atypical features, clinicians may carry out laboratory and imaging studies to exclude other causes of observed symptoms. These include measuring thyroid, renal and liver function, as well as electrolyte balance. Electromyography is not a routine procedure, although it may be useful.
Imaging techniques employed are computerized tomography (CT) scanning, which should be normal in cases of ET and FT, as well as magnetic resonance imaging (MRI), to rule out central nervous system lesions. Single photon emission CT (SPECT) can be used to accurately diagnose Parkinson's disease, as some cases of ET can be mistaken for the former [8]. Ultrasound has also been used to help delineate causes of tremor[9]. Further conditions to rule out are tremors due to alcohol withdrawal, caffeine, drugs, or anxiety.
Treatment
Treatment for Familial Tremor focuses on managing symptoms, as there is no cure. Medications such as beta-blockers (e.g., propranolol) and anticonvulsants (e.g., primidone) are commonly prescribed to reduce tremor severity. In cases where medication is ineffective, other options like botulinum toxin injections or deep brain stimulation (DBS) surgery may be considered. Lifestyle modifications, such as reducing caffeine intake and using adaptive devices, can also help manage symptoms.
Prognosis
The prognosis for Familial Tremor varies. While the condition is generally progressive, meaning symptoms may worsen over time, many individuals experience only mild to moderate tremors that do not significantly impact their daily lives. In some cases, the tremor can become more disabling, affecting the ability to perform routine tasks. However, with appropriate management, most people can lead active and fulfilling lives.
Etiology
The exact cause of Familial Tremor is not fully understood, but it is believed to have a genetic component. It often runs in families, suggesting an autosomal dominant inheritance pattern, where a single copy of the altered gene from one parent can cause the disorder. However, the specific genes involved have not been conclusively identified, and environmental factors may also play a role.
Epidemiology
Familial Tremor is one of the most common movement disorders, affecting an estimated 0.4% to 5% of the general population. It can occur at any age but is more prevalent in older adults. The condition affects both men and women equally and is observed across all ethnic groups. The likelihood of developing Familial Tremor increases with age, and having a family history of the disorder is a significant risk factor.
Pathophysiology
The pathophysiology of Familial Tremor is not completely understood. It is thought to involve abnormal functioning of certain brain regions, particularly the cerebellum, which is responsible for coordinating movement. There may be disruptions in the neural pathways that control motor activity, leading to the characteristic tremors. Research is ongoing to better understand the underlying mechanisms and identify potential targets for treatment.
Prevention
Currently, there are no known methods to prevent Familial Tremor, especially given its genetic component. However, individuals with a family history of the disorder can take steps to manage potential triggers. These include avoiding caffeine and other stimulants, managing stress, and maintaining a healthy lifestyle. Early diagnosis and intervention can help manage symptoms and improve quality of life.
Summary
Familial Tremor is a common neurological disorder characterized by involuntary shaking, primarily affecting the hands. While it is often hereditary, the exact cause remains unclear. Diagnosis is based on clinical evaluation, and treatment focuses on symptom management through medication, lifestyle changes, and, in some cases, surgical interventions. Although the condition can be progressive, many individuals lead normal lives with appropriate management.
Patient Information
If you or a loved one is experiencing symptoms of Familial Tremor, it is important to understand that you are not alone. This condition is common and manageable with the right approach. Symptoms typically include shaking of the hands, head, or voice, which can be more noticeable during activities. While there is no cure, medications and lifestyle adjustments can help reduce the impact of tremors on daily life. If you have a family history of tremors, discussing your symptoms with a healthcare provider can lead to an early diagnosis and better management of the condition.
References
- Tan EK, Teo YY, Prakash KM, et al. LINGO1 variant increases risk of familial essential tremor. Neurology. 2009;73(14):1161–1162.
- Louis ED, Dogu O. Does age of onset in essential tremor have a bimodal distribution? Data from a tertiary referral setting and a population-based study. Neuroepidemiology. 2007;29(3-4):208-212.
- Deuschl G, Bain P, Brin M. Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Mov Disord. 1998;13(Suppl 3 M):2–23.
- Whaley NR, Putzke JD, Baba Y, Wszolek ZK, Uitti RJ. Essential tremor: phenotypic expression in a clinical cohort. Parkinsonism Relat Disord. 2007;13(6):333–339.
- Voller B, Lines E, McCrossin G, et al. Alcohol challenge and sensitivity to change of the essential tremor rating assessment scale. Mov Disord. 2014;29(4):555–558.
- Putzke JD, Whaley NR, Baba Y, Wszolek ZK, Uitti RJ. Essential tremor: predictors of disease progression in a clinical cohort. J Neurol Neurosurg Psychiatry. 2006;77(11):1235–1237.
- Rao AK, Gillman A, Louis ED. Quantitative gait analysis in essential tremor reveals impairments that are maintained into advanced age. Gait Posture. 2011;34(1):65–70.
- Cuberas-Borrós G, Lorenzo-Bosquet C, Aguadé-Bruix S, et al. Quantitative evaluation of striatal I-123-FP-CIT uptake in essential tremor and parkinsonism. Clin Nucl Med. 2011;36(11):991-996.
- Kim JS, Oh YS, Kim YI, Koo JS, Yang DW, Lee KS. Transcranial sonography (TCS) in Parkinson's disease (PD) and essential tremor (ET) in relation with putative premotor symptoms of PD. Arch Gerontol Geriatr. 2012;54(3):e436-439.