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Essential Tremor
- Often referred to as familial tremor due to its possible autosomal dominant inheritance pattern.
- The most common movement disorder.
Clinical Presentation
- Characterized by uncontrollable rhythmic movements, typically involving the hands, head, or tongue.
- An action tremor, observed during voluntary movements, as opposed to a resting tremor like what you would find in Parkinson’s disease.
- May also affect the voice and less commonly the lower limbs.
- The tremor intensifies with fatigue, stress, caffeine, and various other triggers.
Labs, Studies, and Physical Exam Findings
- Diagnosis is primarily clinical, based on characteristic signs and symptoms.
- There are no specific laboratory tests or imaging studies for diagnosing ET; however, tests may be conducted to rule out other causes of tremor.
Treatment
- Management may not always require pharmacotherapy, especially in mild cases.
- Lifestyle modifications: Avoidance of known triggers such as fatigue, stress, and caffeine.
- First-line medical treatment typically involves long-acting beta blockers, like propranolol.
- Second-line treatments include antiepileptics like topiramate and gabapentin, and benzodiazepines such as alprazolam.
- Caution patients regarding self-medication with alcohol due to potential for dependency and other health risks.
Huntington’s Disease
- An autosomal dominant neurodegenerative disorder with cognitive decline, psychiatric issues, and movement disorders.
- Offspring have a 50% chance of inheriting the gene on chromosome 4.
- Symptom onset typically occurs between ages 30-50.
- Progressive and incurable, with about 20 years life expectancy after symptom onset.
Clinical Presentation
- Mental Status Changes:
- Irritability, moodiness, dementia, depression, anxiety, and apathy.
- Movement Disorders:
- Chorea (jerky, random, uncontrolled movements) – the most characteristic feature.
- Fidgetiness, restlessness, rigidity, writhing, abnormal posturing, balance and gait disturbances, difficulty swallowing, and speaking.
Labs, Studies, and Physical Exam Findings
- Diagnosis confirmed by genetic testing, identifying expanded CAG repeat in the HTT gene.
- Imaging: MRI is more sensitive than CT, showing cerebral atrophy, especially of the caudate nucleus and putamen.
Treatment
- No cure; treatment focuses on symptom management and supportive care.
- Psychiatric Symptoms:
- Antidepressants and antipsychotics as needed.
- Movement Disorders:
- Typical and atypical neuroleptics (olanzapine, risperidone, haloperidol).
- Dopamine depleting agents (tetrabenazine).
- Supportive Care:
- Counseling, speech, occupational, and physical therapy to help with mobility and balance.
Parkinson’s Disease
- A degenerative disorder of the central nervous system.
- Caused by the death of dopamine-producing cells in the substantia nigra, leading to an imbalance between dopamine and acetylcholine.
- Characterized by motor symptoms known as parkinsonism.
- Usually diagnosed after 60 years old, but early-onset cases can occur.
Clinical Presentation
- Motor Function:
- Resting “pill-rolling” tremor, beginning in one limb or on one side and potentially spreading.
- Bradykinesia (slow movements) with decreased facial expressiveness, reduced blinking, and reduced arm swing.
- Rigidity, manifesting as lead-pipe or cogwheel.
- Postural instability, rapid shuffling gait, difficulty getting up from a chair, and increased fall risk.
- Psychiatric:
- Loss of executive function including problem-solving, planning, and inhibition of inappropriate actions.
- Speech disorders, mood alterations like depression and anxiety, and in advanced stages, hallucinations and delusions.
- Dementia in later stages.
- Sleep disturbances.
- Autonomic Nervous System:
- Urinary incontinence, orthostatic hypotension, excessive sweating, constipation or gastric motility issues.
- Sexual dysfunction, eye, and vision abnormalities including difficulty in eye movements and blurred vision.
Labs, Studies, and Physical Exam Findings
- Diagnosis is primarily clinical, based on history and physical examination.
- CT or MRI are typically normal but used to rule out other causes of neurological symptoms.
- Lewy bodies, indicative of Parkinson’s, are confirmed post-mortem.
Treatment
- Parkinson’s cannot be cured; treatment focuses on symptom management.
- Medications:
- Anticholinergics (Amantadine, Benztropine) for mild motor symptoms.
- Levodopa – Dopamine precuruser.
- Peripheral dopa decarboxylase inhibitors (Carbidopa) to enhance Levodopa’s effect.
- COMT inhibitors (e.g., Entacapone) extend the effect of Levodopa.
- Dopamine agonists (Bromocriptine, Pergolide) stimulate dopamine receptors.
- MAO-B inhibitors (Selegiline, Rasagiline) increase dopamine concentration in the basal ganglia.
- Surgery:
- Deep Brain Stimulation and ablative surgeries like Pallidotomy.
- Palliative Care:
- Focuses on improving quality of life, including physical therapy, exercise, and supportive services.
Tourette Disorder
- A neurodevelopmental disorder characterized by motor and vocal tics.
- Typically begins between ages 2 and 15, with symptoms often improving in late adolescence.
- Likely inherited, with potential brain abnormalities contributing to the condition.
- Coprolalia (involuntary swearing) occurs in a minority of cases.
Clinical Presentation
- Motor Tics (can be simple or complex):
- Simple: Eye blinking, head jerking, shoulder shrugging, eye darting, finger flexing.
- Complex: Sticking the tongue out, touching the nose or others, smelling objects, obscene gesturing, flapping the arms, hopping.
- Vocal Tics (can be simple or complex):
- Simple: Hiccupping, throat clearing, barking.
- Complex: Yelling, using different tones of voice, repeating one’s own words or phrases (palilalia), repeating others’ words (echolalia), using vulgar words.
Labs, Studies, and Physical Exam Findings
- Diagnosis is clinical, based on history and the presence of both motor and vocal tics for at least one year.
- Additional tests (EEG, MRI, TSH levels, urine drug screen, serum copper) may be used to rule out other conditions, but are not standard for all patients.
Treatment
- Most cases managed with behavioral therapy; medication reserved for more severe cases.
- Behavioral therapies:
- Habit reversal training.
- Comprehensive Behavioral Intervention for Tics (CBIT).
- Exposure and response prevention.
- Medication (for severe cases or significant daily life interference):
- Dopamine antagonists: Fluphenazine, Pimozide, and historically, Haloperidol.
- Atypical antipsychotics like Risperidone.
- Deep brain stimulation as an option for severe, treatment-resistant cases.
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Click here to get the active study guide for movement disorders – It’s amazing!
Here’s a section of the Active Study Guide covering Essential Tremors
Sticky stories
In the late afternoon, Anne, a compassionate Physician Assistant, was reviewing her notes when Greg, a 43-year-old graphic designer, arrived for his appointment. He seemed anxious, primarily due to a noticeable tremor in his hands.
“Hello, Greg. I see you’re concerned about your hands. Can you tell me more about it?” Anne inquired gently.
“It’s these tremors, Anne. They’ve been getting worse over the past year. It’s really affecting my work and daily activities,” Greg explained, his hands visibly shaking.
Anne observed that Greg’s tremors were more pronounced when he tried to use his hands, like when reaching for a glass of water or writing. She also noted that there was no tremor at rest, and Greg didn’t have any other neurological symptoms.
“Have you noticed anything that makes these tremors better or worse? Any family history of similar symptoms?” Anne asked.
“Caffeine seems to make it worse. And yes, my mother had a similar condition,” Greg replied.
Given the characteristics of the tremor and family history, Anne suspected essential tremor, a benign tremor disorder. She conducted a thorough neurological examination to rule out other causes.
“Your symptoms are consistent with essential tremor, which is often familial. It’s not life-threatening, but I understand it can be quite bothersome. We have several treatment options,” Anne explained.
She discussed the possibility of starting medication like propranolol or primidone, which can help reduce tremor severity. Anne also talked about lifestyle modifications, such as reducing caffeine and managing stress, which could alleviate the symptoms.
“Let’s try medication and see how it helps. We can also consider other therapies like physical or occupational therapy if needed,” Anne suggested.
Greg felt relieved with a plan in place. He appreciated Anne’s thorough approach and her understanding of how the tremor impacted his life. With ongoing care and adjustments in treatment, Greg was able to manage his essential tremor effectively and continue his work with more confidence.
In the late afternoon, Anne, a compassionate Physician Assistant, was reviewing her notes when Greg, a 43-year-old graphic designer, arrived for his appointment. He seemed anxious, primarily due to a noticeable tremor in his hands.
“Hello, Greg. I see you’re concerned about your hands. Can you tell me more about it?” Anne inquired gently.
“It’s these tremors, Anne. They’ve been getting worse over the past year. It’s really affecting my work and daily activities,” Greg explained, his hands visibly shaking.
Anne observed that Greg’s tremors were more pronounced when he tried to use his hands, like when reaching for a glass of water or writing. She also noted that there was no tremor at rest, and Greg didn’t have any other neurological symptoms.
“Have you noticed anything that makes these tremors better or worse? Any family history of similar symptoms?” Anne asked.
“Caffeine seems to make it worse. And yes, my mother had a similar condition,” Greg replied.
Given the characteristics of the tremor and family history, Anne suspected essential tremor, a benign tremor disorder. She conducted a thorough neurological examination to rule out other causes.
“Your symptoms are consistent with essential tremor, which is often familial. It’s not life-threatening, but I understand it can be quite bothersome. We have several treatment options,” Anne explained.
She discussed the possibility of starting medication like propranolol or primidone, which can help reduce tremor severity. Anne also talked about lifestyle modifications, such as reducing caffeine and managing stress, which could alleviate the symptoms.
“Let’s try medication and see how it helps. We can also consider other therapies like physical or occupational therapy if needed,” Anne suggested.
Greg felt relieved with a plan in place. He appreciated Anne’s thorough approach and her understanding of how the tremor impacted his life. With ongoing care and adjustments in treatment, Greg was able to manage his essential tremor effectively and continue his work with more confidence.
Can you answer these out loud
- What are the typical characteristics of essential tremor?
- How does essential tremor differ from other types of tremor, such as those seen in Parkinson’s disease?
- What are the common treatment options for essential tremor?
- What other options do patients have outside of medications?
Answers
- Essential tremor typically presents as a rhythmic shaking, often affecting the hands, head, or voice, and can worsen with movement or stress.
- Essential tremor is usually an action tremor, whereas tremors in Parkinson’s disease are often resting tremors.
- Common treatments include beta blockers like propranolol and anti-seizure medications like primidone.
- Lifestyle modifications, such as reducing caffeine intake, managing stress, and using adaptive devices, can help control symptoms and improve quality of life for those with essential tremor.
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